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Article

Integration of VarSome API in an existing bioinformatic pipeline for automated ACMG interpretation of clinical variants.

European review for medical and pharmacological sciences - 1 Dec 2021

Sorrentino E, Cristofoli F, Modena C, Paolacci S, Bertelli M, Marceddu G

Abstract excerpt

OBJECTIVE: While the bioinformatic workflow, from quality control to annotation, is quite standardized, the interpretation of variants is still a challenge. The decreasing cost of massively parallel NGS has produced hundreds of variants per patient to analyze and interpret. The ACMG "Standards and guidelines for the interpretation of sequence variants", widely adopted in clinical settings, assume that the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 34890028
DOI: 10.26355/eurrev_202112_27325

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