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Article

Analysis of pathogenic variants from the ClinVar database in healthy people using next-generation sequencing.

Genetics research - 30 Aug 2017

Rančelis Tautvydas, Arasimavičius Justas, Ambrozaitytė Laima, Kavaliauskienė Ingrida, Domarkienė Ingrida, Karčiauskaitė Dovilė, Kučinskienė Zita Aušrelė, Kučinskas Vaidutis

Abstract excerpt

Next-generation sequencing (NGS) became an effective approach for finding novel causative genomic variants of genetic disorders and is increasingly used for diagnostic purposes. Public variant databases that gather data of pathogenic variants are being relied upon as a source for clinical diagnosis. However, research of pathogenic variants using public databases data could be carried out not only in patients, but...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 28851476
DOI: 10.1017/S0016672317000040
PMCID: PMC6865174

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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