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Article

A reference data set of 5.4 million phased human variants validated by genetic inheritance from sequencing a three-generation 17-member pedigree.

Genome research - 1 Jan 2017

Eberle Michael A, Fritzilas Epameinondas, Krusche Peter, Källberg Morten, Moore Benjamin L, Bekritsky Mitchell A, Iqbal Zamin, Chuang Han-Yu, Humphray Sean J, Halpern Aaron L, Kruglyak Semyon, Margulies Elliott H, McVean Gil, Bentley David R

Abstract excerpt

Improvement of variant calling in next-generation sequence data requires a comprehensive, genome-wide catalog of high-confidence variants called in a set of genomes for use as a benchmark. We generated deep, whole-genome sequence data of 17 individuals in a three-generation pedigree and called variants in each genome using a range of currently available algorithms. We used haplotype transmission information to...

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Identifiers

PMID: 27903644
DOI: 10.1101/gr.210500.116
PMCID: PMC5204340

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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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