A semiautomated whole-exome sequencing workflow leads to increased diagnostic yield and identification of novel candidate variants

Advancing the clinical utility of whole-exome sequencing (WES) for patients with suspected genetic disorders is largely driven by bioinformatics approaches that streamline data processing and analysis. Herein, we describe our experience with implementing a semiautomated and phenotype-driven WES diag...

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Veröffentlicht in:Cold Spring Harb Mol Case Stud
Hauptverfasser: Ji, Jianling, Shen, Lishuang, Bootwalla, Moiz, Quindipan, Catherine, Tatarinova, Tatiana, Maglinte, Dennis T., Buckley, Jonathan, Raca, Gordana, Saitta, Sulagna C., Biegel, Jaclyn A., Gai, Xiaowu
Format: Artigo
Sprache:Inglês
Veröffentlicht: Cold Spring Harbor Laboratory Press 2019
Schlagworte:
Precision Medicine in Practice
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6549575/
https://ncbi.nlm.nih.gov/pubmed/30755392
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a003756
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