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Article

Medical implications of technical accuracy in genome sequencing.

Genome medicine - 2 Mar 2016

Goldfeder Rachel L, Priest James R, Zook Justin M, Grove Megan E, Waggott Daryl, Wheeler Matthew T, Salit Marc, Ashley Euan A

Abstract excerpt

BACKGROUND: As whole exome sequencing (WES) and whole genome sequencing (WGS) transition from research tools to clinical diagnostic tests, it is increasingly critical for sequencing methods and analysis pipelines to be technically accurate. The Genome in a Bottle Consortium has recently published a set of benchmark SNV, indel, and homozygous reference genotypes for the pilot whole genome NIST Reference Material...

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Identifiers

PMID: 26932475
DOI: 10.1186/s13073-016-0269-0
PMCID: PMC4774017

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BRCA2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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