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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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Pubblicato in:Nat Commun
Autori principali: Castel, Stephane E., Mohammadi, Pejman, Chung, Wendy K., Shen, Yufeng, Lappalainen, Tuuli
Natura: Artigo
Lingua:Inglês
Pubblicazione: Nature Publishing Group 2016
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Accesso online: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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