Clinical application of exome sequencing in undiagnosed genetic conditions

2012434 citationsJournal Articlebronze Open Access

Authors

Anna C. Need · Duke University

Vandana Shashi · Duke University

Yuki Hitomi · Duke University

Kelly Schoch · Duke University

Kevin V. Shianna · Duke University

Marie McDonald · Duke University

Miriam H. Meisler · University of Michigan–Ann Arbor

Abstract

This study provides evidence that next-generation sequencing can have high success rates in a clinical setting, but also highlights key challenges. It further suggests that the presentation of known Mendelian conditions may be considerably broader than currently recognised.

Topics & Keywords

Genomics and Rare Diseases Genetics and Neurodevelopmental Disorders Cellular transport and secretion

Publication Details

Published in: Journal of Medical Genetics

Volume 49, Issue 6, pp. 353-361

DOI: 10.1136/jmedgenet-2012-100819

Field-Weighted Citation Impact: 36.45

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Clinical application of exome sequencing in undiagnosed genetic conditions

Authors

Abstract

Topics & Keywords

Publication Details