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Article

Functional testing for variant prioritization in a family with long QT syndrome.

Molecular genetics and genomics : MGG - 1 Jul 2021

Najari Beidokhti Maliheh, Bertalovitz Alexander C, Ji Weizhen, McCormack Jorge, Jeffries Lauren, Sempou Emily, Khokha Mustafa K, McDonald Thomas V, Lakhani Saquib A

Abstract excerpt

Next-generation sequencing platforms are being increasingly applied in clinical genetic settings for evaluation of families with suspected heritable disease. These platforms potentially improve the diagnostic yield beyond that of disease-specific targeted gene panels, but also increase the number of rare or novel genetic variants that may confound precise diagnostics. Here, we describe a functional testing...

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PMID: 33876311
DOI: 10.1007/s00438-021-01780-3

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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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