GeneTalk engl. analyze human sequence variants
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Analyze Human Sequence Variants 1
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Next-generation sequencing has become a powerful tool in personalized medicine. Exomes and whole genomes of patients suffering from rare diseases are screened for sequence variants. GeneTalk, a web-based platform, can filter, reduce and prioritize SNPs and assist in the time consuming and costly interpretation of personal variants in clinical context. It serves as an expert exchange platform for clinicians and scientists who are searching for information about specific sequence variants and connects them to share and exchange expertise on variants that are potentially disease-relevant. GeneTalk is available at www.gene-talk.de.
Transcript of GeneTalk engl. analyze human sequence variants
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Analyze Human Sequence Variants
2www.gene-talk.de
Personalized Medicine
The healthcare system is on its way to personalized medicine
• Integration and interpretation of different diagnostic methods and data
• Personalized risk estimation and prevention
• Tailored therapies• DNA sequencing as key technology
3www.gene-talk.de
Idea and Motivation
• 2 – 3 % of the population are affected by rare genetic diseases
• Importance of genetic diagnostics– Identification of cause of disease– Prevention, prediction and consulting– Personalized theapies and
targeted medication– Inheritance and familiy planning
4www.gene-talk.de
Decoding of the Human Genome
• 2001 first human genome decoded
• 2006 next generation sequencing technologies
• 2007 first personal genome decoded
• 2008 first cancer genome decoded
• 2009 first genetic disorder diagnosed by exome sequencing
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DNA Sequencing
Development of sequencing costs and diagnostic of genetic disorders
costs of genome sequencing [EUR]
diagnosed genetic disorders
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Finding the Needle in a Haystack
• Difficulty:– 3.000.000 differences (sequence variants) per genome– Only one can be disease causing– bottleneck lies in the bioinformatic analysis not in the data acquisition
Person 1 AAATTT healthy
Person 2 AAGTTT healthy
Person 3 AACTTT diseased
7www.gene-talk.de
GeneTalk
• Web-based software– for analysis and interpretation of sequence variants
from next generation sequencing data– for human geneticists, clinicians, and scientists
• Data base and professional network– user generated information about sequence variants – facebook for geneticist, scientists, and clinicians
• Communication platform– exchange of expertise and knowledge– assistance in data interpretation and diagnosis
8www.gene-talk.de
Customer Benefit
• Save time during data interpretation• Reduce costs in diagnostics• Professionalize genetic analysis• Stay up to date with the community• Communicate and exchange knowledge
and expertise• Intuitive useability• Outsourcing of bioinformatic
9www.gene-talk.de
Licencing
Freemium• Free basic tools • Fee-based premium services
Annual licenses• Academic• Commercial
Additional services• In-house server solutions• Genetic reports and Data interpretation• Full-Service (Sequencing and data interpretation)
10www.gene-talk.de
Team of Founders
Peggy Sabri: computer scientist
Peter Krawitzphysician and human geneticist
Tom Kamphanscomputer scientistAlexej Knaus
biotechnologist
