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Article

PriVar: a toolkit for prioritizing SNVs and indels from next-generation sequencing data.

Bioinformatics (Oxford, England) - 1 Jan 2013

Zhang Lu, Zhang Jing, Yang Jing, Ying Dingge, Lau Yu Lung, Yang Wanling

Abstract excerpt

UNLABELLED: Next-generation sequencing has become a valuable tool for detecting mutations involved in Mendelian diseases. However, it is a challenge to identify the small subset of functionally important mutations from tens of thousands of rare variants in a whole exome/genome. Therefore, we developed a toolkit called PriVar, a systematic prioritization pipeline that takes into consideration calling quality of...

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PMID: 23104884
DOI: 10.1093/bioinformatics/bts627

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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