Detection of homozygous and hemizygous complete or partial exon deletions by whole-exome sequencing

The detection of copy number variations (CNVs) in whole-exome sequencing (WES) data is important, as CNVs may underlie a number of human genetic disorders. The recently developed HMZDelFinder algorithm can detect rare homozygous and hemizygous (HMZ) deletions in WES data more effectively than other...

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Vydáno v:NAR Genom Bioinform
Hlavní autoři: Bigio, Benedetta, Seeleuthner, Yoann, Kerner, Gaspard, Migaud, Mélanie, Rosain, Jérémie, Boisson, Bertrand, Nasca, Carla, Puel, Anne, Bustamante, Jacinta, Casanova, Jean-Laurent, Abel, Laurent, Cobat, Aurelie
Médium: Artigo
Jazyk:Inglês
Vydáno: Oxford University Press 2021
Témata:
High Throughput Sequencing Methods
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC8140739/
https://ncbi.nlm.nih.gov/pubmed/34046589
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/nargab/lqab037
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