BALSAC | Université du Québec à Chicoutimi

24

description

 

Transcript of BALSAC | Université du Québec à Chicoutimi

Page 1: BALSAC | Université du Québec à Chicoutimi
Page 2: BALSAC | Université du Québec à Chicoutimi

Dépôt légal : 4e trimestre 2013

Bibliothèque nationale du Canada

Bibliothèque nationale du Québec

ISBN : 2-920803-44-1

Page 3: BALSAC | Université du Québec à Chicoutimi

Fex

I am pleased to present an overview of this year's accomplishments 

for the BALSAC Project. Our hard work was rewarded with an important 

grant  from  the  Canadian  Foundation  for  Innovation,  and  the  project 

gained public visibility with an award‐winning exhibition at the Musée du 

Fjord.  I  want  to  thank  the  entire  BALSAC  team  for  the  enthusiasm  and 

professionalism with which they undertook these initiatives.  

Our  successes  are  proof  that  efforts  to  promote  the  project  and 

catch  the  interest  of  researchers  in  Quebec  and  abroad  were  fruitful. 

Indeed, new and future improvements to the database raise the possibility 

of  more  original  research  and  collaborations  at  the  national  and 

international level.  

Looking  back,  I  realize  that  a  very  important  year  just  went  by, 

promising a bright future for the BALSAC Project and partners.

Word from the Director Table des matières

1 Word from the Director

2 2012-2013 Highlights

4 Development Activities

6 Valorization and Operating Activities

9 Access to Data and Protection of Privacy

10 Acknowledgements

11 Ongoing Research Projects

16 List of Dissemination Activities

19 The BALSAC Project

2012-2013 Annual Report

Page 4: BALSAC | Université du Québec à Chicoutimi

Page 2

2012-2013 Highlights

These are a few of the events that have contributed to the success and visibility of the BALSAC Project and made this an exceptional year.

Research Grant

from the Canadian Foundation for Innovation

The BALSAC Project is one of three social science infrastructures to receive funding from the Canadian Foundation for Innovation (CFI) in the 2012 Leading Edge Fund Competition. The grant is funded by the CFI and the ministère de l'Enseignement supérieur, de la Recherche, de la Science et de la Technologie du Québec, who each contributed $825,000. The remainder of the grant comes from the research funds of the Université du Québec à Chicoutimi and other partner institutions, namely the Research Program in Historical Demography (PRDH) at the Université de Montréal and the Centre interuniversitaire d’études québécoises (CIEQ) of the Université de Trois-Rivières.

The objective is to create an integrated infrastructure of historical microdata on the Quebec population (IMPQ). The IMPQ will regroup in one database all the serial microdata available on the Quebec population since the early days of European settlement, namely vital records and nominal data from the Canadian censuses. This will position the insfrastructure among leading research entities at the international level and allow us to preserve, develop and valorize a unique scientific and historical resource about the Quebec population.

Page 5: BALSAC | Université du Québec à Chicoutimi

Page 3

Recruitment for the Genealogical Component

of the CARTaGENE Project

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 January and August 2013, 7527 people were invited to participate in the genealogical option. The second recruitment phase should continue until March 2014.

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.

T h e BA LSA C T e am

is Proud

of thei r Success!

The Musée du Fjord earned a number of prestigious awards in the last year, including the Coup d’éclat! Award

from the Société des Attractions Touristiques du Québec and an

Honourable Mention for Outstanding Achievement in Exhibitions from the

Canadian Museums Association. It also received the Bronze award for Best Tourist Attraction – 25,000 to 100,000

Visitors - at the Grands Prix du tourisme québécois.

Rec o gn it io n fo r t h e Musée du Fjo rd

an d Part n ers

Since June 2012, the Musée du Fjord has been hosting a new permanent exhibition, Des racines et des rêves : un regard neuf sur le Saguenay-Lac-Saint-Jean. With a chronological timeline of the history of the region based on the birth, marriage and death certificates carefully recorded in parish registers, the exhibit explores themes related to heredity, the Saguenay utopia, and the life of pioneer families and couples. In the last year, thanks to this partnership, 30,000 visitors at the Musée du Fjord had a chance to discover BALSAC and see the work accomplished by our researchers.

Page 6: BALSAC | Université du Québec à Chicoutimi

Page 4

Development Activities Developed over the last 40 years at the UQAC, the BALSAC database was built from Quebec vital records (mainly marriage certificates). These records were digitized and interconnected using a linkage method based on nominative information that allows for the automatic reconstruction of genealogical relations over almost four centuries.

RECORDS PRIOR TO 1800 The BALSAC database also includes 69,000 marriage certificates dating before 1800, which were obtained from the Research Program in Historical Demography (PRDH) of the Université de Montréal through exchanges and other collaboration agreements.   NON CATHOLIC RECORDS Non‐Catholic records from 1800 to 1965 were entered only for some census divisions and sub‐periods. They represent 13 to 14% of all marriages, but most of those records cannot be linked due to lack of information (especially records dating before 1930). 

Developing the Census Linkage Program

The goal of the project is to combine Canadian census data with Quebec vital records by developping a computer-assisted linkage program that will allow us to match households from the census to families reconstituted in the BALSAC database on a nominal basis. This project was completed in 2012-2013.

Now fully developed, this program is composed of three modules: RECBAL, which links census data to BALSAC families, BALREC, which does the reverse, and RECREC, which links sets of data from distinct censuses. In the past year, an individual linkage function was added to enable us to match individuals common in both sources (households or families).

To this day, over 3 million records have

been digitized. This includes all Catholic marriages (about 85% of all marriages)

in Quebec from 1621 to 1965. The database also includes birth and death

certificates from 1838 to 1971 for the region of Saguenay-Lac St-Jean.

All those records went through the linking process of family reconstruction

and only the most complex cases remain to be matched.

Page 7: BALSAC | Université du Québec à Chicoutimi

Page 5

In parallel to the implementation of this program, a new interface was developed to allow us to more efficiently manage the settings, the linkage process and references to auxiliary sources. The program will power an important upcoming linkage operation made possible by the CFI grant.

Continuing Development

with Support from the MDEIE

In the past year, we entered the second phase of the project to standardise the 44,518 professions recorded in the BALSAC database using an international scheme for the classification of occupations (HISCO) and class (HISCLASS) developed by a history research group from the Netherlands (http://historyofwork.iisg.nl/). We modeled the operations in the first phase, so in phase 2 we are adopting a strategy to order the coding of the remaining occupations in decreasing order of frequency in the BALSAC database, as it is much simpler to establish correspondence when occupational titles are common. To date, over 26,000 occupations have been recoded, or over 85% of all occupations mentioned in the database.

The many waves of database expansion over the past 12 years have led to a surge in the quantity and diversity of contents in the dictionary of names and surnames, a core part of the family reconstitution system. This necessitated some revisions to the standardization rules, which began this year. This operation will significantly improve the effectiveness of the linkage procedure, which is based principally in the comparison of nominal data. The surname dictionary, which includes over 295,000 records, has been entirely revised, and work has begun on female and male first names, which represent over 579,000 records.

In collaboration with the UQAC information technology services (STI), which manages the technological infrastructure of the BALSAC Project, we continued to revise the structure of the database and the linkage process this year. After we completed preparations for the migration to the new structure, the relational scheme was completely revised. A number of new fields were added or edited to include information from other sources than vital records. Concretely, this resulted in a full migration from the INGRES database management system to SQL Server.

Page 8: BALSAC | Université du Québec à Chicoutimi

Page 6

Serv ice for

researchers

BALSAC provides assistance

to researchers wishing

to access BALSAC data.

Michèle Jomphe

[email protected]

418-545-5011 #6539

Research Areas

Methodological Developments 4

Genetic Epidemiology 15

Demogentic and biodemography 13

Social Sciences 10

42 projects

Valorization and Operating Activities

Explo it ing the Dat a

The main indicator of the Project's performance is the total number of researchers who use the infrastructure, which has a direct impact on the number of publications using the data. In the last year, BALSAC data was used for 42 research projects involving 47 researchers and over 60 students, assistants and research professionals.

Users’ Affiliations :

Furthermore, as per its mandate as a research infrastructure in the Réseau de médecine génétique du Québec, BALSAC provides researchers with access to anonymized genealogical data that can be combined with 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/

Last year, two researchers downloaded data from this site:

Ole K. Hansen, Associate Professor Forest & Landscape, University of Copenhagen

Shaila A. Musharoff, PhD Candidate Bustamante Lab, Dept. of Genetics, Stanford University.

The complete list of research projects from 2012-2013 can be found on page 11.

Researchers Students and others

Page 9: BALSAC | Université du Québec à Chicoutimi

Page 7

C o o r d inat in g A cc e ss t o t h e G e nea lo g i es o f

CARTaGENE Project Partic ipants

We received two requests for access to the genealogical data from the first recruitment phase of the CARTaGENE project this year from:

Marc Tremblay, UQAC : Analysis of the genealogical characteristics of CARTaGENE participants.

Laurent Excoffier, Université de Berne: Testing the accumulation of deleterious mutations during spatial expansion through exome sequencing.

Last January began the reconstitution of the lineages of 5,413 CARTaGENE participants who consented to provide their genealogical information. The work should be completed by the end of 2013.

The following students were hired to work on this project: Laurence Côté-Lavoie, Angela Brunschwig, Sara-Jeanne Lemieux, David Grant-Poitras and Gabrielle Rouleau from the Université du Québec à Chicoutimi.

Creating a Demo-Genetic Portrait

of the Quebec Po pulation

Supported by the Réseau de médecine génétique appliquée of the FRQS among others, this activity has for objective to produce a demo-genetic portrait of the Quebec population based on BALSAC data. The goal is to demonstrate the value of the database while providing scientific information on the population. Results from these analyses are shared on the BALSAC website and in popular science capsules. This year, the following topics were investigated:

The Ancestors of the Contemporary Quebec Population

Using a sample of 25,757 ascending genealogies representing 5% of all couples married in Quebec between 1925 and 1948 to describe ancestors, founders, paternal and maternal lineages, etc.

Consanguinity in the Regional Populations of Quebec

Using the same 25,757 genealogies to compare the rate of consanguinity in regional populations in Quebec.

Kinship in the Regional Populations of Quebec

Developing a sample of over 46,000 genealogies representative of the population at different periods to study the evolution of kinship in time and space.

Quebec Patronyms Analyzing the frequency and regional distribution of patronyms between 1650 and 1950 using the name of the spouses from over a million marriage certificates.

Founder Effects in Quebec and their Spatial Implications

Describing regional founder effects based on the genealogical analysis of almost 1000 subjects suffering from hereditary diseases and matching control groups.

Amerindian Contribution to the Genetic Heritage of Quebec

Developing strategies to identify Amerindians in the BALSAC database by combining different genealogical and genetic variables.

Page 10: BALSAC | Université du Québec à Chicoutimi

Page 8

Reaching a Wider Publ ic Completed in 2012, the exhibition at Musée du Fjord and the new and improved website helped increase the visibility of the BALSAC Project. Since September 2012, we have taken advantage of many opportunities to meet the public and make them aware of the project. Genealogists have solicited our participation in the 15th conference of the Fédération québécoise des sociétés de généalogie and the conference of the Société de généalogie de Québec. Musée du Fjord also invited over twenty interested people from diverse backgrounds for a presentation on the use of BALSAC, as a tool for the genealogical study of genetic heritage in Quebec. Finally, over 125 students from different high schools, colleges and universities were introduced to the potential of the population database in university research in a speech to the participants at the provincial finals of the Expo-Science Bell at the UQAC. BALSAC was also featured in the 2013 edition of the Montreal Spring School in Population Genomics and Genetic Epidemiology, attended by over 30 students from different Canadian and foreign universities.

Maintain 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.

Page 11: BALSAC | Université du Québec à Chicoutimi

Page 9

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.

Quebec Reference Sample Population Genetics and Genetic Epidemiology in Quebec The Population Genetics component of the Réseau de médecine génétique appliquée has for objective to analyse the genetic diversity of the Quebec population, to identify demographic and historical factors that shaped the genetic heritage and understand their influence on health.

Montreal Spring School of Population Genomics and Genetic Epidemiology Over the last 5 years, the BALSAC database and relevant analysis tools are presented in an annual workshop open to the scientific community.

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. 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.

Page 12: BALSAC | Université du Québec à Chicoutimi

Page 10

Report from the Committee

for th e Protection of Pr iv acy

an d A cces s to Dat a

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.

In order to facilitate the evaluation of the requests for access, an evaluation grid was developed (see sidebar) that enables the CPAD to classify projects based on three criteria related to the characteristics and origins of the participants and the type of data requested. Only requests for access to confidential data go through the CPAD, others are handled by BALSAC management.

Report from th e BALSA C Direct io n

The Steering Committee takes all decisions related to access to non-confidential data. The committee includes Hélène Vézina, Mario Bourque, Ève-Marie Lavoie and Michèle Jomphe. Jean-Sébastien Bournival provides assistance to the Committee to manage forms and agreements related to access to the data. In 2012-2013, five new requests for access to non-confidential data and eight requests for extensions were submitted to the Committee.

Acknowledgements The direction and staff of the BALSAC Project wish to express their gratitude to several instances of the Université du Québec à Chicoutimi for their support. All our thanks to our partner institutions, Université Laval, McGill University, Université du Québec à Trois-Rivières and Université de Montréal for their collaboration. Thanks also to the Université du Québec à Chicoutimi Foundation, the Canadian Foundation for Innovation, the ministère de l'Enseignement supérieur, de la Recherche, de la Science et de la Technologie du Québec and the Réseau de médecine génétique appliquée of the Fonds de recherche en santé du Québec for their financial support.

Evaluation Grid for Access to BALSAC Data Criteria A : Characteristics of the Research Subjects 1- Individuals living or recorded in acts of civil

status dated 100 years ago or less

2- Individuals living or recorded in acts of civil status dated over 100 years ago

Criteria B : Origins of the Research Subjects 3- Researcher provides the subjects’

information to BALSAC 4- Participants themselves or a third party

provide the subjects’ information to BALSAC (the identity of the participants is not known to the researcher)

5- Subjects selected from the BALSAC database based on criteria determined by the researcher

Criteria C : BALSAC Data Requested by the Researcher 1- Confidential data : information from acts

of civil status recorded 100 years ago or less that can enable the identification of individuals

2- Non confidential data : information from acts of civil status recorded over 100 years ago, or less than 100 years ago only if they do not contain the level of precision required for identification of individuals

3- Aggregate or statistical data not referring to the subjects’ or that cannot be used to accurately identify individuals

Page 13: BALSAC | Université du Québec à Chicoutimi

Page 11

Ongoing Research Projects

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 Prolongation autorisée par le CD BALSAC le 15-07-2013

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 Prolongation autorisée par le CD BALSAC le 28-02-2013

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 Prolongation autorisée par le CD BALSAC le 15-07-2013

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 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. Prolongation autorisée par le CD BALSAC le 15-07-2013

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

Re

se

ar

ch

Pr

oje

ct

s |

Ge

ne

tic

ep

ide

mio

log

y

Page 14: BALSAC | Université du Québec à Chicoutimi

Page 12

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

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

Malformation cardiaques congénitales : vers une analyse génomique intégrale Prolongation autorisée par le CD BALSAC le 19-07-2013

ANDELFINGER Gregor U. CHU-Ste-Justine DUBÉ Marie-Pierre Université de Montréal RICHTER Andrea 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) Prolongation autorisée par le CD BALSAC le 19-03-2013

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 Prolongation autorisée par le CD BALSAC le 23-04-2013

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

Re

se

ar

ch

Pr

oje

ct

s |

Ge

ne

tic

Ep

ide

mio

log

y

Page 15: BALSAC | Université du Québec à Chicoutimi

Page 13

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

LANOUETTE Nicolas Université du Québec à Trois-Rivières

Appariement d'un échantillon des données du recensement canadien 1871 au recensement de 1881

DILLON Lisa Université de Montréal

Les conditions de vie en enfance peuvent-elles expliquer la longévité ? Projet terminé en 2012-2013

DESJARDINS Bertrand Université de Montréal

GAGNON Alain Université de Montréal

BOURBEAU Robert 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 Centre interuniversitaire d'études québécoises, UQTR

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

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 sur le Québec et la Belgique Nouveau projet 2012-2013

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

Re

se

ar

ch

Pr

oje

ct

s |

So

cia

l S

cie

nc

es

Page 16: BALSAC | Université du Québec à Chicoutimi

Page 14

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 Berne, Suisse

Influence de divers facteurs démographiques sur la fécondité des femmes

LUMMAA Virpi Université de Sheffield, 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

BHÉRER Claude Université de Montréal

Study of genetic predisposition to fertility and longevity and of their possible relationship in the BALSAC population

PEARSON Peter Lees Université de Sao Paulo, Brésil

OTTO Alberto Université de Sao Paulo, Brésil

Portrait démogénétique de la population du Québec

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

Fecundity and human evolution Nouveau projet 2012-2013 GALOR Oded Université Brown, États-Unis KLEMP Marc Université Brown, États-Unis

Re

se

ar

ch

Pr

oje

ct

s |

De

mo

ge

ne

tic

an

d B

iod

em

og

ra

ph

y

Page 17: BALSAC | Université du Québec à Chicoutimi

Page 15

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 Nouveau projet 2012-2013

CHARPENTIER Arthur Université du Québec à Montréal VIARD Julie Université de Rennes, France

Jonction des fichiers RPQA et BALSAC

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

ST-HILAIRE Marc Université Laval VÉZINA Hélène Université du Québec à Chicoutimi

Modèles généalogiques spatio-temporels Nouveau projet 2012-2013

BOUCHARD-CÔTÉ Alexandre Université de Colombie Britannique KIRKPATRICK Bonnie Université de Colombie Britannique

Research Projects |

M e t h odo lo g ic a l D e v elo p m e n ts

Page 18: BALSAC | Université du Québec à Chicoutimi

Page 16

List of Dissemination Activities

A r t ic le s

Tremblay M (2012) « Ich bin ein Quebecer ». Des racines germaniques dans les généalogies canadiennes-françaises au Québec. Dans Genealogica & Heraldica - Identität in genealogie und heraldik, actes du XXIXe Congrès international des sciences généalogique et héraldique, Pro Heraldica, Stuttgart, p.451-456. Lamarre J, St-Hilaire M (2012) « Les Canadiens français du Midwest américain » in Y. Frenette, É. Rivard, M. St-Hilaire, dir., La francophonie nord-américaine, Québec, Presses de l’Université Laval (coll. «Atlas historique du Québec»), pp. 133-142. Moreau C, Lefebvre JF, Jomphe M, Bhérer C, Ruiz-Linares A, Vézina H, Roy-Gagnon MH, Labuda D (2013) Native American admixture in the Quebec founder population. PLOS One. Jun 12;8(6):e65507.

Communications

Lavoie EM (2012) BALSAC pour l’étude des populations : créneau d’excellence de la recherche à l’UQAC dans le cadre du cours 4HIS452, 24 septembre. Tremblay M (2012) Frontières régionales et ancienneté territoriale : une analyse généalogique. XXXe Congrès international des sciences généalogique et héraldique, Maastricht, 24-28 septembre. Vézina H, Gauvreau D, Gagnon A (2012) Revisiting the fertility decline in a North American context: a micro-level assessment of socioeconomic differentials in the Saguenay population, Seminar on Socio-economic stratification and fertility before, during and after the demographic transition organized by the IUSSP Scientific Panel on Historical Demography. Alghero, Italy, 27-29 September. Gauvreau D (2012) La diversité culturelle au Québec: Aperçu démographique jusqu’en 1940, atelier portant sur La Diversité culturelle, organisé conjointement par le Musée de la civilisation du Québec (MCQ) et le Centre interuniversitaire d’études québécoises (CIEQ), Québec, Octobre. Vézina H (2012) Aspects démogénétiques de la santé. Présentation dans le cadre du programme de DESS en Éco-conseil, Université du Québec à Chicoutimi, 15 octobre. Vézina H (2012) Origines ancestrales et patrimoine génétique des populations régionales du Québec. Société de généalogie de Québec, Québec, 17 octobre.

Page 19: BALSAC | Université du Québec à Chicoutimi

Page 17

Vézina H, Gauvreau D, Gagnon A (2012) Socioeconomic Fertility Differentials in a Late Transition Setting: A Micro-level Analysis of the Saguenay Region in Quebec, Annual Conference of the Social Science History Association, Vancouver, Novembre. Dillon L, Vézina H (2012) Building Bridges: The Fusion of the BALSAC and RPQA databases, 37th Annual Meeting of the Social Science History Association Vancouver, November 1-4. Vézina H, Gauvreau D, Gagnon A (2012) Socioeconomic fertility differentials in a late transition setting: a micro-level analysis of the Saguenay region in Quebec, 37th Annual Meeting of the Social Science History Association Vancouver, November 1-4. Vézina H (2013) Aux origines du patrimoine démographique et génétique des Québécois: développement et exploitation du fichier de population BALSAC. Présentation dans le cadre du cours Design de recherche, Maîtrise en études et intervention régionales, UQAC. 19 mars. Lavoie EM (2013) BALSAC, incursion dans la recherche en sciences humaines à l’UQAC dans le cadre de la finale provinciale 2013 de l’Expo-Science Bell, 18 avril. Vézina H (2013) BALSAC : un outil pour l'étude généalogique des maladies héréditaires. 48e congrès de la Fédération Histoire Québec conjointement avec la Fédération québécoise des sociétés de généalogie. 17-19 mai. Vézina H (2013) BALSAC: a unique resource on the Quebec population. Montreal Spring School in Population Genomics and Genetic Epidemiology. Montréal, 27-31 mai. St-Hilaire M (2013) Parenté et modèles résidentiels : Québec, 1871-1911. Colloque Les populations à travers l’espace. 81e congrès annuel de l’ACFAS, Québec, 6-10 mai. Vézina H, Lavoie EM, Jomphe M (2013) Pareil pas pareil? La diversité démogénétique au sein des populations régionales du Québec. Colloque Les populations à travers l’espace. 81e congrès annuel de l’ACFAS, Québec, 6-10 mai. Gauvreau D, Thornton P, Vézina H (2013) Diversité culturelle et mixité des couples québécois: une analyse spatio-temporelle jusqu’en 1940. Colloque Les populations à travers l’espace. 81e congrès annuel de l’ACFAS, Québec, 6-10 mai. Tremblay M (2013) Origines géographiques ancestrales des populations régionales du Québec. Colloque Les populations à travers l’espace, 81e Congrès de l’ACFAS, Québec, 6-10 mai. Vézina H (2013) BALSAC : un outil pour l'étude généalogique du patrimoine génétique des Québécois. Présentation au Musée du fjord, Saguenay, 12 juin. Vézina H, Dillon L, Bellavance C (2013) Quebec population resources: Towards an integrated infrastructure of historical microdata (1621-1965). Présentation affichée au Congrès de l’UIESP, Busan, Corée, 26-31 août.

Page 20: BALSAC | Université du Québec à Chicoutimi

Page 18

Poster

Gauvin H, Moreau C, Lefebvre JF, Vézina H, Labuda D, Roy-Gagnon MH. Genome-wide Patterns of Identity-by-descent Sharing in the French Canadian Founder Population. American Society of Human Genetics, San Francisco, USA. November 6-10, 2012.

BALSA C Doc u ments

Desbiens D (2013) Planification de la migration vers le système de gestion de base de données SQL Serveur. 4 pages (Document I-C-248). Gaudreault A, Tremblay M (2013) Guide de base SQL server Management Studio 2012, 27 pages (Document I-C-249). Jomphe M, Lavoie EM (2013) Marche à suivre pour effectuer la validation de généalogies RETRO-CARGO, 15 pages (Document I-C-250). Lavoie EM, Vézina H (2012) Caractérisation des effets fondateurs québécois et de leurs ramifications spatiales à partir d’analyses généalogiques de sujets atteints de maladies héréditaires. Partie 1– Complétude, apparentement et consanguinité, novembre, 10 pages (Document I-C-251). Lavoie EM, Jomphe M, Roy C, Tremblay M, Vézina H (2013) Sources et procédures de reconstitutions généalogiques : RETRO, CARGO, BALSAC, 65 pages (Document I-C-252). Bourque M, Casgrain B, Desbiens D, St-Hilaire M, Vézina H (2013) Compte rendu du développement du logiciel de jumelage Recensement-État civil et présentation de l’interface de travail, août, 36 pages (Document I-C-253).

Master ’s Thesis

Achkar A (2013) L’hypercholestérolémie familiale au Saguenay-Lac-Saint-Jean: analyse démogénétique de la mutation LDLR-W66G. Mémoire de maîtrise en médecine expérimentale, UQAC. Direction : Marc Tremblay; codirection : Diane Brisson.

Page 21: BALSAC | Université du Québec à Chicoutimi

Page 19

The BALSAC Project Inter instituti onal St eering Co mmitt ee

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:

Organization Chart

Staff

Manon Bouchard, Jean-Sébastien Bournival, Mario Bourque, Jocelyn Côté, Dominic Desbiens, Alexandre Gaudreault, Michèle Jomphe, Ève-Marie Lavoie, Carole Roy, Christian Roy, Jacinthe Sabourin, Michaël Tremblay.

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.

Page 22: BALSAC | Université du Québec à Chicoutimi
Page 23: BALSAC | Université du Québec à Chicoutimi
Page 24: BALSAC | Université du Québec à Chicoutimi

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