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Article

Whole Exome Sequencing Insufficient for a Definitive Diagnosis of a Patient with Compound Heterozygous Familial Hypercholesterolemia.

Internal medicine (Tokyo, Japan) - 1 Jan 2022

Okada Hirofumi, Tada Hayato, Nomura Akihiro, Nohara Atsushi, Okeie Kazuyasu, Nozue Tsuyoshi, Michishita Ichiro, Takamura Masayuki, Takemura Hirofumi, Kawashiri Masa-Aki

Abstract excerpt

Homozygous familial hypercholesterolemia (HoFH) is a rare genetic disorder, and a genetic analysis is important to make a definitive diagnosis. A comprehensive genetic analysis using next generation sequencing (NGS) and whole exome sequencing (WES) is feasible. However, the application of NGS in the assessment of genomic structural variations is generally limited, and a substantial number of control samples are...

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Identifiers

PMID: 36184534
DOI: 10.2169/internalmedicine.8989-21
PMCID: PMC9593155

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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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