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Article

Whole genome sequencing of one complex pedigree illustrates challenges with genomic medicine.

BMC medical genomics - 23 Feb 2017

Fang Han, Wu Yiyang, Yang Hui, Yoon Margaret, Jiménez-Barrón Laura T, Mittelman David, Robison Reid, Wang Kai, Lyon Gholson J

Abstract excerpt

BACKGROUND: Human Phenotype Ontology (HPO) has risen as a useful tool for precision medicine by providing a standardized vocabulary of phenotypic abnormalities to describe presentations of human pathologies; however, there have been relatively few reports combining whole genome sequencing (WGS) and HPO, especially in the context of structural variants. METHODS: We illustrate an integrative analysis of WGS and HPO...

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Identifiers

PMID: 28228131
DOI: 10.1186/s12920-017-0246-5
PMCID: PMC5322674

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HFE

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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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