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Article

Consistency of variant interpretations among bioinformaticians and clinical geneticists in hereditary cancer panels.

European journal of human genetics : EJHG - 1 Mar 2022

Agaoglu Nihat Bugra, Unal Busra, Akgun Dogan Ozlem, Kanev Martin Orlinov, Zolfagharian Payam, Ozemri Sag Sebnem, Temel Sehime Gulsun, Doganay Levent

Abstract excerpt

Next-generation sequencing (NGS) is used increasingly in hereditary cancer patients' (HCP) management. While enabling evaluation of multiple genes simultaneously, the technology brings to light the dilemma of variant interpretation. Here, we aimed to reveal the underlying reasons for the discrepancy in the evidence titles used during variant classification according to ACMG guidelines by two different...

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Identifiers

PMID: 35132179
DOI: 10.1038/s41431-022-01060-7
PMCID: PMC8904571

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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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