Curating the Clinical Genome 2016

Curating the Clinical Genome 2016


Research

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Scientific Posters

Poster # tbd

Wednesday, June 22, 2016 11:00 - 12:00pm Abstract Poster

Layla Shahmirzadi, Aaron Elliott, Hsiao-Mei Lu, Shuwei Li, Jill Dolinsky, Carin Espenschied, Charles Dunlop. AmbryShare: A new model to fostering a global effort for sharing genomic data to better understand human disease.

Poster # n/a

Wednesday, June 22, 2016 11:00 - 12:00am Abstract Poster

Erica Smith, Layla Shahmirzadi, Kelly Radtke, Mari Rossi, Deepali Shinde, Kelly Hagman, Sha Tang. Clinical Validity scoring of Gene-Disease Associations in Diagnostic Exome Sequencing: Effects on Reporting and Reanalysis.

Poster # n/a

Wednesday, June 22, 2016 11:00 - 12:00pm Abstract Poster

Laura Panos Smith, Jill Dolinsky, Shuwei Li, Patrick Reineke, Rachel McFarland, Melissa Pronold. Exploring trends in mutation distribution of multi-gene panel testing based on ethnicity.

Oral Presentations

Session # tbd

Wednesday, June 22, 2016 3:15 - 5:25pm Abstract

Steven M. Harrison, Jill Dolinsky, Lisa Vincent, Amy Knight Johnson, Tina Pesaran, Danielle R. Azzariti, Soma Das, Sherri Bale, Heidi L. Rehm. Clinical Laboratories Implement the ACMG/AMP Guidelines to Resolve Differences in Variant Interpretations Submitted to ClinVar.

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