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Article

Reassessment of Genomic Sequence Variation to Harmonize Interpretation for Personalized Medicine.

American journal of human genetics - 3 Nov 2016

Garber Kathryn B, Vincent Lisa M, Alexander John J, Bean Lora J H, Bale Sherri, Hegde Madhuri

Abstract excerpt

Accurate interpretation of DNA sequence variation is a prerequisite for implementing personalized medicine. Discrepancies in interpretation between testing laboratories impede the effective use of genetic test results in clinical medicine. To better understand the underpinnings of these discrepancies, we quantified differences in variant classification internally over time and those between our diagnostic...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 27843123
DOI: 10.1016/j.ajhg.2016.09.015
PMCID: PMC5097932

Provenance

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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