Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios

2015338 citationsJournal Articlehybrid Open Access

Authors

Xiaolin Zhu · Duke University

Slavé Petrovski · The Royal Melbourne Hospital

Pingxing Xie · McGill University

Elizabeth K. Ruzzo · Duke University

Yifan Lu · Duke University

K. Melodi McSweeney · Duke University

Bruria Ben‐Zeev · Sheba Medical Center

Abstract

This work indicates that the application of appropriate bioinformatics analyses to clinical sequence data can also help implicate novel disease genes and suggest expanded phenotypes for known disease genes. These analyses further suggest that some cases resolved by whole-exome sequencing will have direct therapeutic implications.

Topics & Keywords

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

Publication Details

Published in: Genetics in Medicine

Volume 17, Issue 10, pp. 774-781

DOI: 10.1038/gim.2014.191

Field-Weighted Citation Impact: 33.35

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Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios

Authors

Abstract

Topics & Keywords

Publication Details