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Rare variant phasing and haplotypic expression from RNA sequencing with phASER

Haplotype phasing of genetic variants is important for clinical interpretation of the genome, population genetic analysis and functional genomic analysis of allelic activity. Here we present phASER, an accurate approach for phasing variants that are overlapped by sequencing reads, including those fr...

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Publié dans:Nat Commun
Auteurs principaux: Castel, Stephane E., Mohammadi, Pejman, Chung, Wendy K., Shen, Yufeng, Lappalainen, Tuuli
Format: Artigo
Langue:Inglês
Publié: Nature Publishing Group 2016
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Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC5025529/
https://ncbi.nlm.nih.gov/pubmed/27605262
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ncomms12817
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