Curating the Clinical Genome 2016 - Ambry Genetics

Wednesday

June 22

Poster Session 11:00 AM – 12:00 PM (3 Posters)
Oral Presentations 3:15 PM – 5:25 PM

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Wednesday, June 22

11:00 AM – 12:00 PM

3 Posters

Session

Pn/a

Exploring trends in mutation distribution of multi-gene panel testing based on ethnicity

Poster

Abstract

Jill Dolinsky, Laura Panos, Melissa Pronold, Patrick Reineke, Rachel McFarland, Shuwei Li

AmbryShare: A new model to fostering a global effort for sharing genomic data to better understand human disease

Poster

Abstract

Aaron Elliott, Carin Espenschied, Charles Dunlop, Hsiao-Mei Lu, Jill Dolinsky, Layla Shahmirzadi, Shuwei Li

Session

Pn/a

Clinical Validity scoring of Gene-Disease Associations in Diagnostic Exome Sequencing: Effects on Reporting and Reanalysis

Abstract

Poster

Deepali Shinde, Erica Smith, Kelly Hagman, MS, CGC, LGC, Kelly Radtke, Layla Shahmirzadi, Mari Rossi, Sha Tang

Wednesday, June 22

3:15 PM – 5:25 PM

1 Presentation

Clinical Laboratories Implement the ACMG/AMP Guidelines to Resolve Differences in Variant Interpretations Submitted to ClinVar.

Abstract

Steven M. Harrison, Jill Dolinsky, Lisa Vincent, Amy Knight Johnson, Tina Pesaran, Danielle R. Azzariti, Soma Das, Sherri Bale, Heidi L. Rehm