Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

20131,960 citationsJournal Articlebronze Open Access

Authors

Yaping Yang · Baylor College of Medicine

Donna M. Muzny · Baylor Genetics

Jeffrey G. Reid · Baylor Genetics

Matthew N. Bainbridge · Baylor College of Medicine

Alecia Willis · Baylor College of Medicine

Patricia A. Ward · Baylor College of Medicine

Alicia Braxton ·

Abstract

Whole-exome sequencing identified the underlying genetic defect in 25% of consecutive patients referred for evaluation of a possible genetic condition. (Funded by the National Human Genome Research Institute.).

Topics & Keywords

Genomics and Rare Diseases Genomic variations and chromosomal abnormalities Genetic factors in colorectal cancer

Publication Details

Published in: New England Journal of Medicine

Volume 369, Issue 16, pp. 1502-1511

DOI: 10.1056/nejmoa1306555

Field-Weighted Citation Impact: 147.71

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Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

Authors

Abstract

Topics & Keywords

Publication Details