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Article

Reinterpretation of sequence variants: one diagnostic laboratory's experience, and the need for standard guidelines.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Mar 2018

Chisholm Caitlin, Daoud Hussein, Ghani Mahdi, Mettler Gabrielle, McGowan-Jordan Jean, Sinclair-Bourque Liz, Smith Amanda, Jarinova Olga

Abstract excerpt

PurposeThe advent of next-generation sequencing resulted in substantial increases in the number of variants detected, interpreted, and reported by molecular genetics diagnostic laboratories. Recent publications have provided standards for the interpretation of sequence variants, but there are currently no standards regarding reinterpretation of these variants. Recognizing that significant changes in variant...

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PMID: 29240080
DOI: 10.1038/gim.2017.191

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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