genomics & society

The ACMG Meeting in Charlotte: Geneticists Start Your Engines!

Posted by Myra I. Roche on March 21, 2012

Beginning next week, we will be reporting on interesting topics from the American College of Medical Genetics Meeting which will be held beginning March 28-31, 2012, in Charlotte, North Carolina.  We will also be posting about the short course (Tuesday, March, 27) entitled “Next Generation Sequencing: Clinical Utility, Laboratory Implementation and Bioinformatics Analysis” which promises to be a fun-filled, seven hour marathon session exploring every nook and cranny of nextgen sequencing.  Hope they’ll at least provide us with some cookies.

Other potentially interesting sessions include:

Reporting of Incidental Findings in Whole Genome/Exome Clinical Testing

Expert Concordance and Discordance for Return of Incidental Findings from Whole Genome Sequencing

Practical Implementation of Next Generation Sequencing in Molecular Diagnostics

UNC presentations include:

Michael Adams : An Informatics Pipeline for Identifying Clinically Relevant Incidental Variants in Whole Genome Sequences. (N. Nasser, C. Bison, K. Lee, C. Schmitt, J. Evans, K. Wilhelmsen, J. Berg).

Jonathan Berg: NCGENES: North Carolina Clinical Genomic Evaluation by NextGen Exome Sequencing (K.  Wilhelmsen, K. Weck, Roche, M., Henderson, G. and Evans, J).

Chris Bizon: varDB: A Genomic Data Management and Annotation System of Using a Hybrid of Relational Databases and Distributed Data Systems. N. Nassar, K. Cavin, C. Schmitt, J. Berg, K. Wilhemsen.

Kristy Crooks:  Separating the Wheat from the Chaff: A Gene-Based Approach for Prioritizing Analysis of Genetic Variants in Diagnostic Whole Exome Sequencing in NCGENES.  J. Berg, J. Booker, J. Evans, K. Foreman, K. Weck).

Kate Foreman, C.G.C.: Implementation of a computational algorithm to assist in the diagnostic interpretation of next-generation sequencing data in a cohort with suspected hereditary breast cancer susceptibility. (M. Adams, K. Lee, K. Weck, J. Evans, J. Booker, J. Berg)

Kristy Lee, C.G.C.: Early Experiences in Recruiting and Expedited Informed Consent for Whole Genome Sequencing Study (M. Michie, R. Haase, D. Skinner, J. Berg, J. Evans).

Laura Milko:  Whole genome sequencing identifies known disease genes, unforeseen syndromes, and potentially novel molecular etiologies in well-characterized pedigrees with hereditary cancer susceptibility (K. Lee, M. Adams, J. Evans, J. Berg)

Chris Rini:  Assessing the Ethical and Psychosocial Implications of the Use of Whole Exome Sequencing in Clinical Medicine.  (D. Skinner, M. Roche, N. Brewer, J. Berg, J. Evans, G. Henderson).

And last, but not least, our very own blog at the poster presentation on Thursday morning, 10:30-11:30.

Myra Roche:  The (CGS) Blog as a Virtual Educational Tool in Genomics for ELSI Trainees  (D. Skinner).

Meeting attendees will be able to access the blog from their smart phone and vote in one of the many polls.
We will be accepting comments too both on the blog and on the poster!

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