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Article

PERHAPS: Paired-End short Reads-based HAPlotyping from next-generation Sequencing data.

Briefings in bioinformatics - 20 Jul 2021

Huang Jie, Pallotti Stefano, Zhou Qianling, Kleber Marcus, Xin Xiaomeng, King Daniel A, Napolioni Valerio

Abstract excerpt

The identification of rare haplotypes may greatly expand our knowledge in the genetic architecture of both complex and monogenic traits. To this aim, we developed PERHAPS (Paired-End short Reads-based HAPlotyping from next-generation Sequencing data), a new and simple approach to directly call haplotypes from short-read, paired-end Next Generation Sequencing (NGS) data. To benchmark this method, we considered the...

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PMID: 33285565
DOI: 10.1093/bib/bbaa320

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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