Rapport annuel 2014 anglais

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Transcript of Rapport annuel 2014 anglais

Page 1: Rapport annuel 2014 anglais
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Dépôt légal : 4e trimestre 2014

Bibliothèque nationale du Canada

Bibliothèque nationale du Québec

ISBN : 2-920803-45-X

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Word from the Director

I am pleased to present an overview of the work accomplished at BALSAC

this past year to enrich, exploit and enhance the database. But first of all,

on behalf of the entire team, allow me to express our gratitude for the

contributions of all those who make it possible for BALSAC to continue to

grow after more than 40 years.

We first wish to thank the Ministère de l’Économie, de l’Innovation et des

Exportations (MDEIE) for their financial assistance. Their three-year

grant (2011-2014) has enabled us to implement a number of measures

aimed at maintaining our expertise, developing new ways to exploit and

promote the database, and concretely improving the services we offer to

researchers. BALSAC is at the cutting edge of current technology thanks

to support from the MDEIE.

BALSAC and its partners greatly benefited from the leverage created by

that funding. Work on the integrated infrastructure of historical

microdata on the Quebec population (Infrastructure intégrée de

microdonnées historiques de la population du Québec, or IMPQ) is

ongoing thanks to financial support from the Canadian Foundation for

Innovation (CFI) and the Ministère de l’Enseignement supérieur, de la

Recherche et de la Science and to a partnership with the Université de

Montréal and the Université du Québec à Trois-Rivières. This important

Table of contents

3 Word from the director

5 Development Activities

10 Valorization and Operating Activities

14 Access to Data and Protection of Privacy

15 Ongoing Research Projects

20 List of Dissemination Activities

24 The BALSAC Project

2013-2014 Annual Report

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project promises a bright future for the BALSAC Project and the study of

the Quebec population through historical microdata.

In November 2013, BALSAC joined in an application to maintain the

Network of Applied Medical Genetics (RMGA) under the theme network

research funding program managed by the Fonds de recherche du

Québec en santé (FRQS). The funding obtained for 2014-2018 will allow

us to extend our services to more genetics researchers, including those

working with data from the CARTaGENE Project.

It is also important to note the support we receive from the Foundation

and the Programme d’aide à la recherche of the Université du Québec à

Chicoutimi and our three other partner universities (Laval, Montréal and

McGill). Every year, the assistance provided by these institutions proves

crucial to the continued operation and proper management of the

BALSAC Project, which also greatly benefits from the work of an

interinstitutional steering committee, where I am joined by Bernard Brais

from McGill University, Damian Labuda from Université de Montréal

and Marc St-Hilaire from Université Laval. I thank them sincerely for the

time they spent discussing and reflecting on future development

priorities for BALSAC. We are honored to count them among our

ambassadors.

Finally, I want to emphasize the enthusiasm and professionalism of the

entire BALSAC team. We all join in thanking and wishing a happy

retirement to Mario Bourque, who left us this year for a well-deserved

retirement.

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BALSAC in Numbers

To date, over 3 million vital records have

been digitized. This includes all Catholic

marriages (and some records from other

denominations) in the province of Quebec

from 1621 to 1965. For the Saguenay-Lac-

Saint-Jean region, the database includes

birth and death records as well as

marriage records from 1838 to 1971. As to

family reconstruction using the data, all

records in the database have been

processed and only the more complex

cases remain to be matched. This year,

over 30 750 linkages were made, with

50 000 more still to come before all records

up to 1965 have been processed

Development Activities Bu i ld ing the IMPQ In the 2012 Leading Edge Fund Competition of the Canadian Foundation for Innovation (CFI), BALSAC and its partners, the Programme de recherche en démographie historique (PRDH) at the Université de Montréal and the Centre interuniversitaire d’études québécoises (CIEQ) at the Université de Trois-Rivières, received major funding to create the integrated infrastructure of historical microdata on the Quebec population (IMPQ). The IMPQ will regroup in one database all available serial microdata on the Quebec population since the early days of European settlement, namely vital records and nominal data from the Canadian census. This will position the institution among leading research entities at the international level and enable us to preserve, develop and promote a unique scientific and historical resource to better understand the Quebec population.

For BALSAC, the IMPQ project includes the development of a linkage software to associate at the nominal level the households from the census to the families reconstructed in the BALSAC database. Development of the software was completed in 2013. In the past year, a linkage function was added to optimize how households with more than one family nucleus are handled. This feature resolves issues encountered when matching members of households with more than one nucleus (for example, a widowed father living with his son's family).

In parallel, the IT team rebuilt an application to explore census records and created new code to import and manage data. We now have new space dedicated to census data in the database's relational structure to handle relationships between BALSAC records and Census records. A private and secured data sharing network (www.risq.qc.ca) was also established amongst partner institutions. The physical installation and configuration of the infrastructure was completed in the last few months and the network should be functional by October 2014.

To date, households from seven nominal censuses (1852-1911) in Trois-Rivières and the Côte-Nord region were matched to families from the BALSAC database (linking census and vital records). The same matching process was conducted for two censuses from Saguenay (1871, 1881) and four from Québec City (1851, 1871, 1881 and 1891). Depending on the census, the linkage software was able to process 80 to 95% of households, the remainder being structured in ways that prevent linkages with vital records. As we can see in Table 1, the proportion of matched household also varies depending on the time or region, but the success rate is over 75% in almost all cases, reaching as high as 98% in Saguenay. In that region, the BALSAC database includes birth and death records, which explains the increased performance. This is also evident in the proportion of census individuals linked to

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BALSAC families, which as can be seen in Table 2 is between 55% and 78% for Trois-Rivières, Côte-Nord and Québec City and jumps to 94% for Saguenay.

On top of linking census households with the families reconstituted from vital records, the software has a module enabling it to link different censuses together (Census-Census + 10 years linkage). The first intercensus matches were conducted for the regions of Côte-Nord, Saguenay and Trois-Rivières; the results are presented in Table 3. Here also, the success rate varies with time and region, but results from Trois-Rivières and Saguenay show that we can link 60 to 70% of households recorded in two successive censuses. This past year, the IMPQ project was presented at the International Union for the Scientific Study of Population Conference in Korea, at the meeting of the Association des démographes du Québec during the ACFAS conference, and during a seminar on computational methods for survey and census data in the social sciences organized by the Centre de recherches mathématiques de Montréal. Those presentations demonstrated the richness of the data that will be available to researchers once the IMPQ is completed.

The Équipe de recherche sur les populations du passé (ERPP)

met in May 2014 in Québec City for a workshop on the progress of the IMPQ

project

From left to right, top to bottom : Philippe Antaya (UQTR), Claude

Bellavance (UQTR), Jean-Sébastien Bournival (BALSAC),

Marc Tremblay (UQAC), Eve-Marie Lavoie (BALSAC), Danielle

Gauvreau (Concordia), Lisa Dillon (UdeM), Alain Gagnon (UdeM), Hélène Vézina (BALSAC), Laurent Richard (ULaval), Bertrand Desjardins (UdeM), Michèle

Jomphe (BALSAC), Marc St-Hilaire (ULaval), Tomy Grenier (UQTR), Marilyn Amore-Vieta

(UdeM) et France Normand (UQTR).

Efficient and Quick Linkages

The linkage software can associate on a nominative basis census households to the families from the BALSAC database. A query will return

candidate families to match individuals from a household to their vital records... in less than three minutes on average!

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Table 1 | Ratio of Linked Households to Processed Households

1851 1861 1871 1881 1891 1901 1911

Trois-Rivières 86,1% 81,5% 82,7% 88,9% 92,2% 87,1% 89,9%

Côte-Nord 41,0% 68,0% 84,8% 76,8% 79,5% 78,4% 88,9%

Québec 73,1% 72,9% 79,9% 87,3%

Saguenay 97,9% 98,4%

Table 2 | Ratio of Census Individuals Matched to BALSAC in Linked Households

1851 1861 1871 1881 1891 1901 1911

Trois-Rivières 63,2% 59,3% 66,0% 65,9% 70,9% 71,3% 73,1%

Côte-Nord 55,8% 58,1% 70,3% 71,9% 74,3% 74,2% 77,5%

Québec 59,4% 63,4% 67,9% 68,1%

Saguenay 93,1% 93,9%

Table 3 | Results from Intercensus Linking Process

T r o i s - R i v i è r e s S a g u e n a y C ô t e - N o r d

1852>1861 1891>1901 1871>1881 1861>1871

N % N % N % N % Processed Households 754 95,8 1634 96,1 1875 94,0 719 94,9

Linked Households 441 58,5 981 60,0 1333 71,1 293 40,1

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Cont inu ing Development wi th Support f rom the MDEIE Originally, the system used to reconstruct families in BALSAC data was developed exclusively to handle vital records, specifically marriage records. In order to integrate other types of records like common law unions, the first imperative was to update the different tables (dictionaries) to optimize our chances of success when reconstructing families.

P r o f e s s i on s

BALSAC started a project to standardise professions using an international classification scheme (HISCO/HISCLASS) developed by a history research group from the Netherlands. This system, a golden standard in the social sciences, will make the data available to the international scientific community, allowing for broader comparative analysis. This year, some 44 000 occupations were standardized, or 97% of all occupations recorded in BALSAC. The remaining 3% are occupations that only occur once, are ambiguous or erroneous. The operation will allow to assign a code to most occupations listed in the census. A document describing the project and coding process as well as statistics on occupations will be added to the BALSAC bibliography in the fall 2014.

Na m e s a nd S u r n am e s

The many rounds of expansion in the last years have increased the size and diversity of the BALSAC names and surnames dictionaries, which are core to the family reconstruction system. It became necessary to revise the standards and the rules of the phonetic code, which were originally created for a predominantly francophone patronymic pool limited to the Saguenay region. A full revision was completed in the spring of 2014. This operation included the correction and standardization of spellings to improve matching rates by removing extra characters like hyphens, periods and apostrophes, for example. The 579 000 male and female names found to be similar were grouped, placing all variants of one name under one code. This helped eliminate doubles and clean up the tables to receive new variants and foreign names from census data and the RETRO genealogical module. In the end, the BALSAC name dictionary now includes almost 230 000 distinct surnames and all their variants observed in the vital records, and the first name dictionary counts almost 450 000 distinct names and their variant spellings. This large-scale operation will greatly improve the effectiveness of the linking process, which is based mainly on the comparison of nominative elements.

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R é s id e n c e O u t s id e Qu e b e c

Important both in its scope and significance, the residence tables update began in spring 2014. Using official geographical names databases, BALSAC created a dictionary to classify residence and follow data entry by recording location. This dictionary includes all places of residence mentioned in vital records, which can be grouped at different levels (country, region, census district, residential unit, town, village, parish, etc.) Places outside the province of Quebec (particularly in France and the United States) were also included in the dictionary, but their classification was less systematic and required a major update. All information on French or American residence was originally entered in one field, so it was extremely difficult to sort cities from states or from departments. Funding from the MDEIE was used to split and optimize the data, and we are now able to conduct analysis at different geographical levels (from city to country). This will be supplemented with longitude and latitude coordinates for all residential units in Quebec. The foundation dates of Catholic parishes were also validated. The residence dictionary update will be complete in the fall of 2014. The dictionary now includes over 12 000 entries plus all their variants from the vital records, for a total of 22 600 places of residence.

I n te g ra t i o n o f E v e n t s O th e r t h a n V i ta l R e c or d s

The active participation of BALSAC in the CARTaGENE Project brought to the fore the need for some software changes to facilitate the addition of genealogical data from contemporary individuals. In order to handle portions of genealogies not covered in BALSAC, the RETRO genealogical database was developed in parallel to store data from sources other than vital records. Once we finish importing RETRO data into BALSAC, researchers interested in genealogies will be able to use our specialized tools on more data without being hampered by the gaps between separate databases and the limitations of the software. Thus the scientific community will directly benefit from this integration.

The integration of RETRO into BALSAC began with the complete revision of the two databases’ relational schemes. Then, two important applications were upgraded: Bal-Saisie, used to enter new events into the database and modify existing records, and CARGO, used to reconstruct genealogical lineages. The operation required several rounds of testing to confirm data compatibility and the standardization of certain variables, always with the objective to improve data entry and linkages. Finally, integration and coherence queries were developed to assure the integrity of both databases is maintained. To date, many trials were conducted in testing environments and the final integration is scheduled for late fall 2014.

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Valorization and Operating Activities Outreach and awareness have a direct impact on the use of BALSAC data by researchers. Efforts to valorize and fully exploit the database are therefore at the heart of our strategy to reach and recruit new users and maintain the many relationships we already have within the national and international scientific community. It is in this perspective that we undertake the following activities to showcase the data and analysis tools in their best light. This continued effort has thus far greatly improved the Project’s recognition and reputation in the fields of history and the social sciences, but also population genetics and the biomedical sciences.

Explo i t ing the Data Communications and publications by users/researchers are our main avenue to promote the project. The full list of publications for 2013-2014 can be found in another section.

The main indicator of the Project's performance is the total number of researchers who use the infrastructure. This has a direct impact on the number of publications using the data, and informs us on the researchers’ affiliations, fields and areas of research. In the last year, data from BALSAC was used in 42 projects involving 48 researchers and almost 60 students, assistants and research professionals.

Users’ Affiliations :

Furthermore, as per its mandate as part of the Network of Applied Medical Genetics research infrastructure, BALSAC provides researchers with access to anonymized genealogical data that can be combined to genetic data from the laboratory of Damian Labuda at the Research Centre of CHU Ste-Justine. This data is available on the Quebec Reference Sample - Population Genetics and Genetic Epidemiology in Quebec website at this address: http://www.quebecgenpop.ca/

Serv ice for researchers

BALSAC provides assistance to

researchers wishing to access

BALSAC data.

Michèle Jomphe

[email protected]

418-545-5011 poste 6539

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The full list of research projects undertaken in 2013-2014 can be found on page 15.

Coord inat ing Access to the Genealogies of CARTaGENE Pro ject Part ic ipants BALSAC is coordinating the genealogical component of the second phase of the CARTaGENE Project. This involves getting informed consent from participants and managing, collecting and compiling the results of a genealogical questionnaire.

The development of an electronic genealogical questionnaire and management application was finalized in the fall of 2012. The first questionnaires were sent out to participants in January 2013. In total, between September 2013 and August 2014, 11 000 people were invited to participate in the genealogical option.

The information collected from the participants will be used to reconstitute genealogical lineages that can then be used for research in conjunction with other data on health and life habits collected by CARTaGENE.

Creat ing a Demo-Genet ic Por t ra i t of the Quebec Popula t ion

Supported by the Réseau de médecine génétique appliquée of the FRQS among others, the objective of this activity is to promote the BALSAC Project to the scientific community and illustrate all its potential in order to attract more researchers. It is a way to produce original scientific data and make it available for research purposes. Popular science publications are also created from those studies to give a broader audience some of the insights derived from the data. Finally, this exercise allows us test the robustness of our analysis tools, notably GENLIB, when handling large volumes of data.

Painting a demo-genetic portrait of the Quebec population using BALSAC population data was an interesting initiative. As an illustration, the genealogies of over 25 000 individuals from all corners of the province were reconstructed and measured in different ways. This is the first genealogical sample of that magnitude and generational depth for the Quebec population. Findings were presented at scientific conferences and French and English capsules "Did you know?" summaries will be posted to the BALSAC website (http://balsac.uqac.ca). This year, we explored the following themes:

Research Areas

Genetic Epidemiology 15

Demogenetic and biodemography 14

Social Sciences 11

Methodological Developments 6

46 projets

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Consanguinity in the Regional Populations

of Quebec

Using 46,451 genealogies to measure variations in the level of close consanguinity at different periods in regional populations in Quebec.

Effective Offspring Number in Different

Periods

Measuring time and location variations of effective offspring number for 735 457 individuals married between 1640 and 1910.

Contributions of the King’s Daughters to the Quebec

Population

Development of strategies to identify King's Daughters in the BALSAC data and measure their contribution to the contemporary population.

The following capsules « Did you know ? » were published on the BALSAC website : … The founders of the French-Canadian population do not all originate from France? (in French) …Some ancestors appear in the genealogies of almost all Quebecois of Frech Canadian ancestry? (in French)

...Super-ancestors in the genealogy of French Canadians who stand out for their large number of occurrences in the same genealogy?

…Surnames tell a story?

Finally, the analyses conducted for this activity will be published in a special issue of the magazine Saguenayensia in winter 2015.

Reaching a W ider Publ ic Many of our outreach activities address the greater public and the media. The team is always willing to initiate young people to social science research or demonstrate to genealogists the large-scale studies made possible by our population database, for example. You will recall the permanent exhibit "Des racines et des rêves : un regard sur le Saguenay-Lac-Saint-Jean" inaugurated in 2012. The show presents the history of the region and its inhabitants in a scientific light supported by 40 years of research using BALSAC data. Since it opened, the exhibit was seen by over 64 000 visitors at the Musée du Fjord, who had a chance to discover BALSAC and the work of our researchers. The awards and recognition heaped on the Musée are evidence of the quality of the exhibit and the interest of the public.

- Mention honorable de l’Association des musées canadiens;

- Lauréat Bronze dans la catégorie Attraction touristique -25 000 à 100 000 visiteurs;

- Gala régional des Grands prix du tourisme 2013, Attractions touristiques - 25 000 à 100 000 visiteurs;

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- Prix Coup d’Éclat 2012. Remis par la Société des Attractions touristiques du Québec;

- Bourse Québecor Média d’une valeur de 43 500$. In October 2013, this list got a bit longer with the addition of the Excellence Award for the permanent exhibit renewal project from the Société des musées québécois. The partnership continues to be fruitful, as the Musée du Fjord recently participated in the popular television series on genealogy Qui-êtes-vous? to be broadcast by Radio-Canada in 2014-2015.

Mainta in ing a Diverse Network In order to ensure the visibility of the project and improve the services offered to the scientific community, BALSAC is involved in several national and international collaborations.

With Social Sciences and History Research Teams

Centre interuniversitaire d’études québécoises (CIEQ) Group of researchers from nine universities who study how Quebec society has transformed since the first settlements.

Research Program in Historical Demography (PRDH) The Quebec population register contains 700,000 records (baptism, marriage and death certificates) from the early days of the colony to the end of the 18th century, with additional data from the Canadian census from the 19th century.

EurAmerica Group of European and North American researchers who utilize available data from the 19th and 20th centuries to understand and compare the evolution of various demographic phenomena. European Historical Population Samples Network (EHPS-Net) Group working to create a common format to provide access and enable comparisons between different databases containing information on individuals, families and households.

Collaboratory on Historical International Standard Classification of Occupations (HISCO) International framework for the classification of occupations for the purpose of historical research. With Basic Science Research Teams

CARTaGENE Both a specific public health survey and a resource for researchers interested in genomes, epidemiology, genetics or public health, CARTaGENE maintains a database and representative samples of the genomic diversity of over 20,000 Quebecers, of which 5400 are available for genealogical analysis.

Montreal Spring School of Population Genomics and Genetic Epidemiology Over the last 6 years, the BALSAC database and relevant analysis tools are presented in an annual workshop open to the scientific community.

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With Community Associations

Corporation de recherche et d’action sur les maladies héréditaires (CORAMH) Non-profit organisation working to prevent hereditary diseases in Saguenay-Lac-St-Jean through awareness, information and education.

Regroupement québécois des maladies orphelines (RQMO) RQMO is a group of associations whose members or their family are suffering from rare diseases. Its mandate is to further knowledge on rare diseases, facilitate contact between caregivers and patients and raise awareness.

Access to Data and Protection of Privacy The BALSAC Project's partner institutions have given to the Université du Québec à Chicoutimi the responsibility to manage access to the database and protect the confidentiality of the personal information it contains.

Report f rom the Commit tee for the Protect ion of Pr ivacy and Access to Data

For this purpose, the UQAC Board of Directors has entrusted the application of the Policy on Access to BALSAC Data for Research Purposes to the Committee for the Protection of Privacy and Access to Data (CPAD) and the BALSAC Project directors. The CPAD is the entity charged with evaluating requests for access to confidential data for research purposes. It is composed of five members:

• Marc Tremblay, Professor, Human Sciences, UQAC; • Jacinthe Douesnard, Professor, Economic and Administrative

Sciences, UQAC; • François Guérard, Professor, Human sciences, UQAC; • Christine Drolet, Communications Consultant, Chicoutimi Health

and Social Services Centre; • Michèle Jomphe, Research Professional, BALSAC Project.

This section of the BALSAC Annual Report serves as a summary of the CPAD's activities for the UQAC Board of Directors. In 2013-2014, no new request was made to access confidential BALSAC data. The committee was however consulted on the delays affecting requests for access submitted to the Commission d’accès à l’information du Québec under article 125 of the Act respecting Access to documents held by public bodies and the Protection of personal information, as well as on the possibility to use BALSAC data for clinical purposes. Under the terms of

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the Policy, the detailed list of ongoing research projects can be found on page 15.

Report f rom the BALSAC Steer ing Commit tee The Steering Committee is mandated by the UQAC Board of Directors to evaluate all requests for access to non-confidential BALSAC data. The committee includes Hélène Vézina, Mario Bourque, Ève-Marie Lavoie and Michèle Jomphe. Jean-Sébastien Bournival provides assistance managing data access forms and agreements and Jacinthe Sabourin handles the keys. In 2013-2014, the committee was consulted approximately twenty times on data access or privacy matters. Four (4) requests for access to non-confidential data and four (4) requests for extensions of access to data were submitted to the Committee.

Ongoing Research Projects Genet ic Ep idemio logy

Analyse et caractérisation des effets fondateurs pour les mutations responsables des maladies de Morquio et de Tay-Sachs chez les Canadiens français.

VÉZINA Hélène Université du Québec à Chicoutimi OUELLETTE Gail Portail québécois des maladies orphelines

Étude de la prédisposition génétique à la sclérose en plaques au Québec BRAIS Bernard Institut et Hôpital neurologiques de Montréal

Université McGill ST-HILAIRE Marc Université Laval DUBÉ Marie-Pierre Université de Montréal Étude démographique et généalogique de la névrite optique héréditaire de Leber

BRAIS Bernard Institut et Hôpital neurologiques de Montréal Université McGill

DESJARDINS Bertrand Université de Montréal TREMBLAY Marc Université du Québec à Chicoutimi ST-HILAIRE Marc Université Laval VÉZINA Hélène Université du Québec à Chicoutimi Caractérisation génétique des ataxies spino-cérébelleuses héréditaires : volet généalogique

BRAIS Bernard Centre de recherche CHUM Notre-Dame ST-HILAIRE Marc Université Laval DESJARDINS Bertrand Université de Montréal TREMBLAY Marc Université du Québec à Chicoutimi VÉZINA Hélène Université du Québec à Chicoutimi Étude généalogique de la dystrophie musculaire oculopharyngée

BRAIS Bernard Institut et Hôpital neurologiques de Montréal Université McGill

DESJARDINS Bertrand Université de Montréal VÉZINA Hélène Université du Québec à Chicoutimi ST-HILAIRE Marc Université Laval TREMBLAY Marc Université du Québec à Chicoutimi

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Étude de l'introduction des mutations de la névrite héréditaire sensitive et autonomique de type 2 (NHSA2) au Québec et des modifications sensitives chez les porteurs hétérozygotes

BRAIS Bernard Institut et Hôpital neurologiques de Montréal Université McGill

ST-HILAIRE Marc Université Laval VÉZINA Hélène Université du Québec à Chicoutimi TREMBLAY Marc Université du Québec à Chicoutimi Recherche des gènes de l’hypertension et de ses facteurs associés

HAMET Pavel CHUM Hôtel-Dieu SEDOVA Lucie CHUM Technopole Angus GAUDET Daniel CSSS-Chicoutimi BOUCHARD Gérard Université du Québec à Chicoutimi DUMAS Pierre CHUM Technopole Angus MERLO Ettore École polytechnique Université de Montréal SEDA Ondrej CHUM Technopole Angus Étude des déterminants génétiques de l'asthme au Saguenay-Lac-St-Jean

LAPRISE Catherine Université du Québec à Chicoutimi VÉZINA Hélène Université du Québec à Chicoutimi LABUDA Damian Université de Montréal ROY-GAGNON Marie-Hélène CHU-Ste Justine Nature polygénique du glaucome à angle ouvert

RAYMOND Vincent Université Laval

Recherche des déterminants génétiques de la mucolipidose de type II dans la région du Saguenay-Lac-St-Jean

VÉZINA Hélène Université du Québec à Chicoutimi LAPRISE Catherine Université du Québec à Chicoutimi Analyse des effets associés aux transmissions maternelle et paternelle de l'hypercholestérolémie familiale et des déterminants démogénétiques de la distribution des diverses mutations et de l'intolérance aux statines

COUTURE Patrick Université Laval GAUDET Daniel CSSS-Chicoutimi BRISSON Diane CSSS-Chicoutimi TREMBLAY Marc Université du Québec à Chicoutimi Malformations cardiaques congénitales: vers une analyse génomique intégrale

ANDELFINGER Gregor U. Cardiologue CHU-Ste Justine DUBÉ Marie-Pierre Université de Montréal Étude rétrospective des paramètres cliniques et paracliniques des patients affectés par des tumeurs sécrétrices de catécholamines au CHUM (paragangliome phéochromocytome et ganglioneurome surrénaliens)

BOURDEAU Isabelle CRCHUM-Hôtel-Dieu GRUNENWALD Solange CRCHUM-Hôtel-Dieu VÉZINA Hélène Université du Québec à Chicoutimi BINET Marie-Claire Médecine génique CHUM

Effet fondateur dans la population canadienne-française avec le syndrome AMRF ANDERMANN Frederick Institut et hôpital neurologique de Montréal

Université McGill VÉZINA Hélène Université du Québec à Chicoutimi AMROM Dina Institut et hôpital neurologique de Montréal

Université McGill ANDERMANN Eva Institut et hôpital neurologique de Montréal

Université McGill Vers une utilisation optimale des ressources généalogiques de la population québécoise en épidémiologie génétique

ROY-GAGNON Marie-Hélène CHU-Ste Justine

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LABUDA Damian Université de Montréal VÉZINA Hélène Université du Québec à Chicoutimi

Demogenet ic

Influence de divers facteurs démographiques sur la fécondité des femmes Projet terminé en 2013-2014

LUMMAA Virpi Sheffield University, Angleterre

Caractéristiques démogénétiques des populations régionales du Québec

TREMBLAY Marc Université du Québec à Chicoutimi

VÉZINA Hélène Université du Québec à Chicoutimi

DESJARDINS Bertrand Université de Montréal

ROY-GAGNON Marie-Hélène CHU-Ste Justine

Ramifications génétiques et démographiques de l'effet fondateur québécois Prolongation accordée en 2013-2014

BHÉRER Claude Université de Montréal

Study of genetic predisposition to fertility and longevity and of their possible relationship in the BALSAC population Projet terminé en 2013-2014

PEARSON Peter Lees Université de Sao Paulo, Brésil

OTTO Alberto Otto Université de Sao Paulo, Brésil

Portrait démogénétique de la population du Québec Demande de prolongation en cours

VÉZINA Hélène Université du Québec à Chicoutimi

TREMBLAY Marc Université du Québec à Chicoutimi

Diversité, relations interculturelles et intégration: une étude sociodémographique et démogénétique de la population du Québec, 1760-1940

VÉZINA Hélène Université du Québec à Chicoutimi

GAUVREAU Danielle Université Concordia

OLSON Sherry Université McGill

THORNTON Patricia Université Concordia

Analyse des caractéristique généalogiques des participants au projet CARTaGENE

TREMBLAY Marc Université du Québec à Chicoutimi

Étude du phénomène de surf génétique dans la population de Charlevoix et du Saguenay Lac-St-Jean

LABUDA Damian Université de Montréal

VÉZINA Hélène Université du Québec à Chicoutimi

EXCOFFIER Laurent Université de Bern, Suisse

Groupe de référence en épidémiologie génétique et génétique des populations humaines au Québec

VÉZINA Hélène Université du Québec à Chicoutimi

LABUDA Damian Université de Montréal

TREMBLAY Marc Université du Québec à Chicoutimi

ROY-GAGNON Marie-Hélène CHU-Ste Justine

EXCOFFIER Laurent Université de Bern, Suisse

Fecundity and human evolution

GALOR Oded Université Brown, États-Unis

KLEMP Marc Université Brown, États-Unis

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Test de l’accumulation de mutations délétères lors d’expansions spatiales par le séquençage d’exomes

EXCOFFIER Laurent Université de Berne, Suisse

DUPERRET Isabelle Université de Berne, Suisse

FOUCAL Adrien Université de Berne, Suisse

La consanguinité au Québec : description spatiale et temporelle du phénomène en utilisant le fichier de population BALSAC

ASSELIN Tommy Université du Québec à Chicoutimi

Hérédité et mortalité Projet terminé en 2013-2014

CHARPENTIER Arthur Université du Québec à Montréal

VIARD Julie Université de Rennes, France

La contribution démographique et génétique des Filles du Roy à la population québécoise contemporaine Nouveau projet 2013-2014

DESPORTES Sophie Université du Québec à Chicoutimi

Soc ia l Sc iences

Occupation de l'espace au Québec

ST-HILAIRE Marc Université Laval

Espace social et urbanisation : dynamique spatiale de l'espace métropolitain de Québec, 1851-1961 Projet terminé en 2013-2014

LANOUETTE Nicolas Université du Québec à Trois-Rivières

Appariement d'un échantillon des données du recensement canadien 1871 au recensement de 1881 Demande de prolongation en cours

DILLON Lisa Université de Montréal

Pont de glace, inondation et navigation. Aménagement et gestion du fleuve Saint-Laurent dans la seconde moitié du XIXe siècle

ANTAYA François Université du Québec à Trois-Rivières

Étude socio-historique de l'apparentement des médecins du Québec du régime français à la deuxième guerre mondiale

BRAIS Bernard Institut et Hôpital neurologiques de Montréal, Université McGill

GOULET Denis Université du Québec à Trois-Rivières

Historical International Social Mobility Analysis (HISMA): international comparison of mobility patterns during the 19th and 20th century

MAAS Ineke Université d’Utrecht, Pays-Bas

VAN LEEUWEN Marco Université d’Utrecht, Pays-Bas

VÉZINA Hélène Université du Québec à Chicoutimi

EurAmerica: Comparative research on the micro demography of 20th century Europe and America Demande de prolongation en cours

VÉZINA Hélène Université du Québec à Chicoutimi

GAGNON Alain Université de Montréal

GAUVREAU Danielle Université Concordia

Mesure des effets réciproques de la longévité et de la fécondité

GAGNON Alain Université de Montréal

L’influence de la fratrie pour l’accès au mariage : étude comparative

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sur le Québec et la Belgique

CARON Marianne Université de Montréal

DILLON Lisa Université de Montréal

GAGNON Alain Université de Montréal

MATTHIS Koenraad Center for Sociological Research, Family and Population, Belgique

NEYRINCK Ward Center for Sociological Research, Family and Population, Belgique

DESJARDINS Bertrand Université de Montréal

La mobilité sociale intergénérationnelle au Québec et en Ontario dans la deuxième moitié du 19è siècle Nouveau projet 2013-2014

TORRES CANTOR Catalina Université de Montréal

Diversity and development Nouveau projet 2013-2014

KLEMP Marc Université Brown, États-Unis

GALOR Oded Université Brown, États-Unis

Methodologica l Deve lopments

Projet d'Infrastructure intégrée de microdonnées historiques de la population du Québec (1621-1965) (IMPQ) Nouveau projet 2013-2014

VÉZINA Hélène Université du Québec à Chicoutimi

TREMBLAY Marc Université du Québec à Chicoutimi

LABUDA Damian Université de Montréal

DILLON Lisa Université de Montréal

GAGNON Alain Université de Montréal

DESJARDINS Bertrand Université de Montréal

GAUVREAU Danielle Université Concordia

ST-HILAIRE Marc Université Laval

MARCOUX Richard Université Laval

BELLAVANCE Claude Université du Québec à Trois-Rivières

NORMAND France Université du Québec à Trois-Rivières

Développement d’un prototype de jumelage assisté par ordinateur permettant d’associer les ménages des recensements aux familles reconstituées du fichier BALSAC

Projet terminé en 2013-2014

ST-HILAIRE Marc Université Laval

VÉZINA Hélène Université du Québec à Chicoutimi

Jonction des fichiers RPQA et BALSAC

DESJARDINS Bertrand Université de Montréal

Modèles généalogiques spatio-temporels

BOUCHARD-CÔTÉ Alexandre Université de Colombie Britannique

KIRKPATRICK Bonnie Université de Colombie Britannique

Opérations préliminaires de jumelage du fichier BALSAC avec le Registre de population du Québec ancien (RPQA) en vue de la création d'une base de données intégrée

DESJARDINS Bertrand Université de Montréal

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Tests sur un fichier en format "épisodes" en vue d'analyses statistiques et de conversion Projet terminé en 2013-2014

BOURNIVAL Jean-Sébastien Université du Québec à Chicoutimi

List of Disseminartion Activities

Art ic les Gauvin, H., Moreau, C., Lefebvre, J.-F., Laprise, C., Vézina, H., Labuda, D., & Roy-Gagnon, M.-H. (2014). Genome-wide patterns of identity-by-descent sharing in the French Canadian founder population. European Journal of Human Genetics, 22, 814–821. doi :10.1038/ejhg.2013.227

St-Hilaire, M., Richard, L., & Marcoux, R. (2014). Individual and familial life courses in Quebec City, 1871-1911: Some considerations on two biographical data-sets. Dans The dawn of Canada’s century: hidden histories (pp. 322–358). Montreal : McGill-Queen’s University Press.

Tremblay, M. (2014). Les origines régionales ancestrales au Québec. Cahiers québécois de démographie, 43(1), 133-161. doi:10.7202/1025493ar

Tremblay, M., Bouhali, T., Gaudet, D., & Brisson, D. (2014). Genealogical analysis as a new approach for the investigation of drug intolerance heritability. European Journal of Human Genetics, 22(7), 916–922. doi:10.1038/ejhg.2013.270

Vézina, H., Gauvreau, D., & Gagnon, A. (2014). Socioeconomic fertility differentials in a late transition setting: A micro-level analysis of the Saguenay region in Quebec. Demographic Research, 30(38), 1098–1027. doi:10.4054/DemRes.2014.30.38

Vézina, H., Tremblay, M., Lavoie, È.-M., & Labuda, D. (2014). Concordance entre origine ethnique déclarée et origines ancestrales chez les Gaspésiens. Population, 69(1), 7-28. doi:10.3917/popu.1401.0007

Communicat ions Bherer, C., Excoffier, L., Roy-Gagnon, M.-H., Hussin, J., Vézina, H., & Labuda, D. (2013). Genealogical evidence of allele frequency shuffling explains regional genetic structure in a founder population. Dans American Society of Human Genetics Conference. Boston. 22-26 octobre.

Caron, M. (2014). Une histoire de famille? Le choix du conjoint au Québec du 18e et 19e siècle. Dans Association internationale des démographes de langue française. Bari, Italie. 26-29 mai.

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Caron, M., & Neyrinck, W. (2014). The influence of siblings for access to marriage: a comparative study on Quebec and Belgium, 1842-1912. Dans European Social Science History Conference. Vienne, Autriche. 25 avril.

Dribe, M., Bras, H., Breschi, M., & Gagnon. (2013). Socioeconomic status and fertility: Insights from historical transitions in Europe and North America. Dans Presentation at the Economic History Association 2013 Annual Meeting. Washington. 20 -22 septembre.

Ghislain, C., & St-Hilaire, M. (2013). Microdonnées et renouvellement des études rétrospectives de population: l’exemple canadien à partir des recensements des XIXe et XXe siècles. Dans Chaire Quetelet. Louvain-la-Neuve, France. 14 novembre.

Milot, E. (2014). Malédiction maternelle et maladies mitochondriales: le cas de la neuropathie optique de Leber. Dans Journées génétiques du RMGA. Montréal. 15 mai.

Moreau, C. (2014). Deep rooted human genealogies and their use in genetic epidemiology. Dans Montreal Spring School of Population Genomics and Genetic Epidemiology. Mai.

Moreau, C., Milot, E., Preuss, C., Vézina, H., Roy-Gagnon, M.-H., Andelfinger, G., & Labuda, D. (2014). Identification du locus associé au syndrome de CAID et du couple l’ayant introduit en Nouvelle-France. Dans Journées génétiques du RMGA. Montréal. 14-16 mai.

Moreau, C., Lefebvre, J.-F., Gauvin, H., Jomphe, M., Preuss, C., Andelfinger, G., Labuda, D., Vézina, H. & Roy-Gagnon, M.-H. (2014). Identifying founders most likely to have introduced disease-causing mutations with the R package GenLib. Dans International Genetic Epidemiology Society. Vienne, Autriche. Août.

Roy-Gagnon, M.-H. (2013). Empirical kinship estimation in the French Canadian founder population. Dans Department of Epidemiology and Biostatistics. Montréal. Octobre.

St-Hilaire, M. (2014). SIGH et données spatio-temporelles au CIEQ. Dans Participation à l’atelier-conférence canadien sur les SIG historiques à l'UQAM. Montréal. 31 janvier.

Tremblay, M. (2014). Analyse des caractéristiques généalogiques des participants au projet CARTaGENE. Dans Colloque La démographie de demain: innovations, intersections et collaborations, 82e congrès annuel de l’ACFAS. Montréal. 12-16 mai.

Vézina, H., & Brunet, G. (2013). Les approches intergénérationnelles en démographie historique. Dans Colloque organisé à l’occasion du 50e anniversaire de la Société de démographie historique. Paris France. 5-6 septembre.

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Vézina, H. (2013). Aspects démogénétiques de la santé. Dans Programme de DESS en Éco-conseil, Université du Québec à Chicoutimi. Chicoutimi (Québec), Canada. 24 octobre.

Vézina, H. (2013). Génétique et population: le fichier BALSAC, une ressource unique pour mieux comprendre les maladies héréditaires au Québec. Dans Table ronde des Instituts de recherche en santé du Canada: Vers une approche concertée de prise en charge des maladies héréditaires orphelines. Saguenay. 19 novembre.

Vézina, H. (2013). Genealogical investigation of the genetic heritage of the French Canadian population. Dans Population Genetics Lab, Institute of Ecology and Evolution, Université de Berne. Suisse. 28 novembre.

Vézina, H., & Lavoie, È.-M. (2013). Métissage entre les Autochtones et les Canadiens français au Québec: que nous apprennent les actes de mariage? Dans Vingt-sixièmes Entretiens du Centre Jacques Cartier, Colloque Populations pionnières, populations coloniales, populations métisses (Afrique et Amériques, XVIe-XXe siècles). Lyon (France). 25-26 novembre.

Vézina, H., St-Hilaire, M., & Bellavance, C. (2014). Le jumelage des données d’état civil et de recensement pour le développement de l'Infrastructure intégrée des microdonnées historiques de la population québécoise (IMPQ). Dans Colloque La démographie de demain: innovations, intersections et collaborations. 82e congrès annuel de l’ACFAS. Montréal. 12-16 mai.

Vézina, H. (2014). Positionnement et rayonnement international d’une infrastructure de recherche sur la population québécoise. Dans Table-ronde Le Québec dans le monde: réseaux, influences, contributions. Colloque 20e anniversaire du CIEQ. Québec. Juin.

Vézina, H. (2014). The linkage of micro census data to vital records: new perspectives for population reconstruction. Dans « Méthodes de calcul des données de sondage et de recensement en sciences sociales » Un atelier pour statisticiens et chercheurs en sciences sociales. Centre de recherches mathématiques, Montréal. 20-21 juin.

Poster Bherer, C., Excoffier, L., Roy-Gagnon, M.-H., Hussin, J., Vézina, H., & Labuda, D. (2013). Genealogical evidence of allele frequency shuffling explains regional genetic structure in a founder population. Dans Poster presentation Workshop on Coalescent Theory: New developments and Applications. Centre de recherches mathématiques de l’Université de Montréal, Montréal. 7- 11 octobre.

Tremblay, M. (2014). The contribution of English, Scottish and German settlers to the French-Canadian gene pool of the Quebec (Canada)

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population. Dans Poster session, European Population Conference. Budapest, Hongrie. 25-28 juin.

BALSAC Documents

BALSAC (2013). Entente interinstitutionnelle entre l’Université du Québec à Chicoutimi, l’Université du Québec à Trois-Rivières et l’Université de Montréal dans le cadre du projet Infrastructure intégrée des microdonnées historiques de la population du Québec (1621-1965). Document Balsac-254, p. 27. Chicoutimi (Québec), Canada.

Lavoie, È.-M., & Vézina, H. (2013). Métissage entre les autochtones et les Canadiens français au Québec: que nous apprennent les actes de mariages. Document Balsac-264, (p. 12). Chicoutimi (Québec), Canada.

Tremblay, M., & Desbiens, D. (2013). Fusion de la base de données BALSAC et RETROCARGO. Journal des travaux : tâches et résolutions. Document Balsac-258, p. 19. Chicoutimi (Québec), Canada.

Tremblay, M., & Desbiens, D. (2013). Fusion RETRO-BALSAC: Documentation, questions et réponses. Document Balsac-259, p. 21. Chicoutimi (Québec), Canada.

Tremblay, M., & Desbiens, D. (2014). BALSAC Saisie. Processus de sauvegarde : Baptême, Mariage et Sépulture. Document Balsac-260, p. 5. Chicoutimi (Québec), Canada.

Tremblay, M., & Desbiens, D. (2014). Fusion de la base de données BALSAC et RETROCARGO. Plan de mise en production et documentation de référence. Document Balsac-261, p. 7. Chicoutimi (Québec), Canada.

Tremblay, M., & Desbiens, D. (2014). Fusion de la base de données BALSAC et RETROCARGO. Liste de mise en production et documentation de référence. Document Balsac-262, p. 3. Chicoutimi (Québec), Canada.

Tremblay, M., & Desbiens, D. (2014). Architecture réseau Projet FCI. Pont entre les deux SGBD et MS SQL server. Connexion TCP/IP socket 1433. Document Balsac-263, p. 1. Chicoutimi (Québec), Canada.

Doctora l Thesis Bherer C. (2014). Ramifications génétiques et démographiques de l'effet fondateur québécois. Thèse de doctorat, Université de Montréal.

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Bernard Brais is Professor of Human Genetics at McGill University and neurogeneticist at the Montreal Neurological Institute.

Damian Labuda is Professor in the Department of Pediatrics at the Université de Montréal and researcher at the Research Center of the CHU Ste-Justine.

Marc St-Hilaire is Professor in the Department of Geography at Université Laval and Director of CIEQ Université Laval.

Hélène Vézina is Professor in the Department of Human Sciences at the Université du Québec à Chicoutimi and Director of BALSAC Project.

The BALSAC Project In te r ins t i tu t iona l Steer ing Commit tee

The BALSAC Project can now count on the advice of an Interinstitutional Steering Committee to discuss the high-level direction of the project, guide management on development priorities and support activities to exploit and valorize the database. These are the members of the ISC:

Organ iza t ion Char t

Conseil des universités partenairesUQAC | U. Laval | McGill | UdeM

Comité de protection etd’accès aux données

DirectriceProjet BALSAC

Comité d’orientationinterinstitutionnel

Secteur développement Secteur exploitation et valorisation

Service aux chercheurs

Comité directeur

Staf f Manon Bouchard, Jean-Sébastien Bournival, Mario Bourque, Jocelyn Côté, Dominic Desbiens, Michèle Jomphe, Ève-Marie Lavoie, Carole Roy, Jacinthe Sabourin, Michaël Tremblay. Students and research ass is tants

Sophie Desportes, Gabrielle Rouleau, Sara-Jeanne Lemieux

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555 boulevard Université | Chicoutimi (Québec) Canada G7H 2B1 | 418.545.5517 Email: [email protected] Site Web : http://balsac.uqac.ca