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Article

Assessing the clinical utility of protein structural analysis in genomic variant classification: experiences from a diagnostic laboratory.

Genome medicine - 22 Jul 2022

Caswell Richard C, Gunning Adam C, Owens Martina M, Ellard Sian, Wright Caroline F

Abstract excerpt

BACKGROUND: The widespread clinical application of genome-wide sequencing has resulted in many new diagnoses for rare genetic conditions, but testing regularly identifies variants of uncertain significance (VUS). The remarkable rise in the amount of genomic data has been paralleled by a rise in the number of protein structures that are now publicly available, which may have clinical utility for the interpretation...

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Identifiers

PMID: 35869530
DOI: 10.1186/s13073-022-01082-2
PMCID: PMC9308257

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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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