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Article

SeqHBase: a big data toolset for family based sequencing data analysis.

Journal of medical genetics - 1 Apr 2015

He Min, Person Thomas N, Hebbring Scott J, Heinzen Ethan, Ye Zhan, Schrodi Steven J, McPherson Elizabeth W, Lin Simon M, Peissig Peggy L, Brilliant Murray H, O'Rawe Jason, Robison Reid J, Lyon Gholson J, Wang Kai

Abstract excerpt

BACKGROUND: Whole-genome sequencing (WGS) and whole-exome sequencing (WES) technologies are increasingly used to identify disease-contributing mutations in human genomic studies. It can be a significant challenge to process such data, especially when a large family or cohort is sequenced. Our objective was to develop a big data toolset to efficiently manipulate genome-wide variants, functional annotations and...

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Identifiers

PMID: 25587064
DOI: 10.1136/jmedgenet-2014-102907
PMCID: PMC4382803

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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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