GeneTalk engl. analyze human sequence variants


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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

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  • ----- Meeting Notes (13.05.13 22:01) -----GeneTalk ist das richtige Werkzeug um die Nadel zu findenGeneTalk ist das Facebook für Humangenetiker
  • GeneTalk engl. analyze human sequence variants

    1. 1. Analyze Human SequenceVariants1
    2. 2. www.gene-talk.dePersonalized MedicineThe healthcare system is on its way topersonalized medicine• Integration and interpretation of differentdiagnostic methods and data• Personalized risk estimation andprevention• Tailored therapies• DNA sequencing as key technology2
    3. 3. www.gene-talk.deIdea and Motivation• 2 – 3 % of the population are affected by raregenetic diseases• Importance of genetic diagnostics– Identification of cause of disease– Prevention, prediction and consulting– Personalized theapies andtargeted medication– Inheritance and familiy planning3
    4. 4. www.gene-talk.deDecoding of the HumanGenome• 2001 first human genomedecoded• 2006 next generationsequencing technologies• 2007 first personal genomedecoded• 2008 first cancer genomedecoded• 2009 first genetic disorderdiagnosed by exomesequencing4
    5. 5. www.gene-talk.deDNA SequencingDevelopment of sequencing costs anddiagnostic of genetic disorders5costs of genomesequencing [EUR]diagnosed geneticdisorders
    6. 6. www.gene-talk.deFinding the Needle in aHaystack• 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 acquisitionPerson 1 AAATTT healthyPerson 2 AAGTTT healthyPerson 3 AACTTT diseased6
    7. 7. www.gene-talk.deGeneTalk• Web-based software– for analysis and interpretation of sequence variantsfrom 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 diagnosis7
    8. 8. www.gene-talk.deCustomer Benefit• Save time during data interpretation• Reduce costs in diagnostics• Professionalize genetic analysis• Stay up to date with the community• Communicate and exchange knowledgeand expertise• Intuitive useability• Outsourcing of bioinformatic8
    9. 9. www.gene-talk.deLicencingFreemium• Free basic tools• Fee-based premium servicesAnnual licenses• Academic• CommercialAdditional services• In-house server solutions• Genetic reports and Data interpretation• Full-Service (Sequencing and data interpretation)9
    10. 10. www.gene-talk.deTeam of FoundersPeggy Sabri: computer scientistPeter Krawitzphysician andhuman geneticistTom KamphanscomputerscientistAlexej Knausbiotechnologist10