ASHG 2015

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

Abstract

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

Clinical laboratories collaborate to resolve variant interpretation differences in ClinVar

Abstract

Poster

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

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

Poster

Abstract

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

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

Abstract

Poster

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

Variant of Unknown Significance rates vary by ethnicity and genes analyzed

Poster

Abstract

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

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

Abstract

Poster

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

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

Poster

Abstract

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