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Rapid whole-genome sequencing identifies a homozygous novel variant, His540Arg, in HSD17B4 resulting in D-bifunctional protein deficiency disorder diagnosis.

Cold Spring Harbor molecular case studies - 1 Dec 2020

Savage Lane, Adams Stacie D, James Kiely, Chowdhury Shimul, Rajasekaran Surender, Prokop Jeremy W, Bupp Caleb

Abstract excerpt

Rapid whole-genome sequencing (rWGS) allows for a diagnosis to be made quickly and impact medical management, particularly in critically ill children. Variants identified by this approach are often not identified using other testing methodologies, such as carrier screening or gene sequencing panels, targeted panels, or chromosomal microarrays. However, rWGS can identify variants of uncertain significance (VUSs),...

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Identifiers

PMID: 33115767
DOI: 10.1101/mcs.a005496
PMCID: PMC7784488

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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