Workshop:
Getting Personal about Genomes*
Monday, June 24 | 5:30 - 8:30 pm | Hotel Kabuki | San Francisco, CA
Having your exome or whole genome sequenced is now feasible. However, the prospect of analyzing and interpreting your personal genome is not that simple. Getting Personal about Genomes is hosted by bionformaticians who have the expertise, tools, and vested interest in analyzing and interpreting their own genomes and are willing to share their journeys. As these trailblazers shed light on their genomes, they are advancing the understanding of genomics for all.
Instructors:
Open-Source Platforms for Personal Genomics
Konrad J. Karczewski, Biomedical Informatics, Stanford University and Co-author, "Exploring Personal Genomics"
The rapidly decreasing costs of genotyping and next-generation sequencing has enabled individuals, including physicians and laypersons, to explore their personal genetic data. To this end, we have developed open-source pipelines for personal genome analysis (STORMSeq) and interpretation (Interpretome), and have written the first hands-on guide to personal genomics, "Exploring Personal Genomics" from Oxford University Press.
The Analysis and Interpretation of My DTC 23andMe Exome
Gabe Rudy, Vice President, Product Development, Golden Helix and Author, “A Hitchhiker’s Guide to Next Generation Sequencing”
Exome sequencing has seen a run of success in the diagnosis of highly penetrant monogenic disorders and is now being applied to a broad range of research and clinical uses. Can non-symptomatic consumers gain from the raw research-grade exomes available through DTC services? By using my own analysis and interpretation of the 80x exome purchased through 23andMe Exome Pilot program, I will highlight challenges with the quality of the data, the assessment of variants of unknown significance, and the limits of interpreting novel genomic variation in consumers with no severe phenotypes like me. At the same time, I will explore variants of interest and one that will lead to early screening and lifestyle changes.
Details: http://www.clinicalgenomeconference....?id=121826#SC2
Registration info: https://chidb.com/register/2013/clg/reg.asp
Getting Personal about Genomes*
Monday, June 24 | 5:30 - 8:30 pm | Hotel Kabuki | San Francisco, CA
Having your exome or whole genome sequenced is now feasible. However, the prospect of analyzing and interpreting your personal genome is not that simple. Getting Personal about Genomes is hosted by bionformaticians who have the expertise, tools, and vested interest in analyzing and interpreting their own genomes and are willing to share their journeys. As these trailblazers shed light on their genomes, they are advancing the understanding of genomics for all.
Instructors:
Open-Source Platforms for Personal Genomics
Konrad J. Karczewski, Biomedical Informatics, Stanford University and Co-author, "Exploring Personal Genomics"
The rapidly decreasing costs of genotyping and next-generation sequencing has enabled individuals, including physicians and laypersons, to explore their personal genetic data. To this end, we have developed open-source pipelines for personal genome analysis (STORMSeq) and interpretation (Interpretome), and have written the first hands-on guide to personal genomics, "Exploring Personal Genomics" from Oxford University Press.
The Analysis and Interpretation of My DTC 23andMe Exome
Gabe Rudy, Vice President, Product Development, Golden Helix and Author, “A Hitchhiker’s Guide to Next Generation Sequencing”
Exome sequencing has seen a run of success in the diagnosis of highly penetrant monogenic disorders and is now being applied to a broad range of research and clinical uses. Can non-symptomatic consumers gain from the raw research-grade exomes available through DTC services? By using my own analysis and interpretation of the 80x exome purchased through 23andMe Exome Pilot program, I will highlight challenges with the quality of the data, the assessment of variants of unknown significance, and the limits of interpreting novel genomic variation in consumers with no severe phenotypes like me. At the same time, I will explore variants of interest and one that will lead to early screening and lifestyle changes.
Details: http://www.clinicalgenomeconference....?id=121826#SC2
Registration info: https://chidb.com/register/2013/clg/reg.asp