ASHG 2015

A patient with Beaulieu-Boycott-Innes syndrome, illustrating the utility of whole exome sequencing

Abstract

J. Amos, K. Helbig, R.R. Lebel, S. Tang, W. Alcaraz

Clinical laboratories collaborate to resolve variant interpretation differences in ClinVar

Abstract

Poster

Amy Knight Johnson, Danielle Azzariti, Elizabeth Chao, Heidi Rehm, Jill Dolinsky, Lisa Vincent, Steven Harrison

CASK mutation identified by whole exome sequencing in a patient that expands the clinical spectrum for MICPCH syndrome

Poster

Abstract

D Schuessler, J Zhao, N Dosa, RR Lebel, S. Tang

Single gene (SGT) vs. Multi-gene panel testing (MGPT) for TP53 germline mutations in Li Fraumeni syndrome (LFS)

Abstract

Poster

Elizabeth Chao, Emily Dalton, Holly Laduca, Huma Rana, Jennifer Thompson, Jill Dolinsky, Judy E. Garber, Rachel McFarland, Rebecca Gelman, Virginia Speare

Variant of Unknown Significance rates vary by ethnicity and genes analyzed

Poster

Abstract

H. LaDuca, J. Dolinsky, J. Thompson, K. Panchani, L. Panos, V. Speare

Diagnostic Exome Sequencing (DES) provides a diagnosis for 23% of adult patients

Abstract

Poster

C. Gund, D. El-Khechen, K. Burk, K. D. Farwell Hagman, L. Shahmirzadi, S. Li, S. Tang, Z. Powis

Diagnostic exome sequencing identifies alterations in the newly characterized gene, COQ4, expanding the phenotypic spectrum

Poster

Abstract

Beau Crabb, Bhambhani Vikas, Deepali N. Shinde, Dima El-Khechen, Marilyn Tsang, Nancy J. Mendelsohn, Wendy Alcaraz