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Article

The challenge of comprehensive and consistent sequence variant interpretation between clinical laboratories.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2016

Pepin Melanie G, Murray Mitzi L, Bailey Samuel, Leistritz-Kessler Dru, Schwarze Ulrike, Byers Peter H

Abstract excerpt

PURPOSE: Genetic testing has shifted from academic laboratories with expertise in specific genes to commercial laboratories that offer tests of a diverse array of genes. The purpose of this comparative study was to determine whether one academic laboratory's model of variant interpretation is sim...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Sequence Analysis, DNA

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Identifiers

PMID: 25834947
DOI: 10.1038/gim.2015.31

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25834947-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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