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Article

trioPhaser: using Mendelian inheritance logic to improve genomic phasing of trios.

BMC bioinformatics - 22 Nov 2021

Miller Dustin B, Piccolo Stephen R

Abstract excerpt

BACKGROUND: When analyzing DNA sequence data of an individual, knowing which nucleotide was inherited from each parent can be beneficial when trying to identify certain types of DNA variants. Mendelian inheritance logic can be used to accurately phase (haplotype) the majority (67-83%) of an individual's heterozygous nucleotide positions when genotypes are available for both parents (trio). However, when all...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 34809557
DOI: 10.1186/s12859-021-04470-4
PMCID: PMC8607709

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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