Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

Yang, Yaping; Muzny, Donna M.; Reid, Jeffrey G.; Bainbridge, Matthew N.; Willis, Alecia; Ward, Patricia A.; Braxton, Alicia; Beuten, Joke; Xia, Fan; Niu, Zhiyv; Hardison, Matthew T.; Person, Richard; Bekheirnia, Mir Reza; Leduc, Magalie S.; Kirby, Amelia; Pham, Peter; Scull, Jennifer; Wang, Min; Ding, Yan; Plon, Sharon E.; Lupski, James R.; Beaudet, Arthur L.; Gibbs, Richard A.; Eng, Christine M.

doi:10.1056/nejmoa1306555

articleNew England Journal of MedicineOct 2, 2013BRONZE OA

Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

YYYaping Yang DMDonna M. Muzny JGJeffrey G. Reid MNMatthew N. Bainbridge AWAlecia Willis

Baylor College of Medicine · Baylor Genetics

PubMed

Indexed incrossrefpubmed

Abstract

Background

Whole-exome sequencing is a diagnostic approach for the identification of molecular defects in patients with suspected genetic disorders.

Methods

We developed technical, bioinformatic, interpretive, and validation pipelines for whole-exome sequencing in a certified clinical laboratory to identify sequence variants underlying disease phenotypes in patients.

Citation impact

1,966

total citations

FWCI: 145.96
Percentile: 100%
References: 37

Citations per year

Authors

24

Topics & keywords

Topics

Keywords

Exome sequencing
Proband
Medicine
Exome
Genetics
Mendelian inheritance
Genetic testing
Disease

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