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Article

An analytical framework for optimizing variant discovery from personal genomes.

Nature communications - 25 Feb 2015

Highnam Gareth, Wang Jason J, Kusler Dean, Zook Justin, Vijayan Vinaya, Leibovich Nir, Mittelman David

Abstract excerpt

The standardization and performance testing of analysis tools is a prerequisite to widespread adoption of genome-wide sequencing, particularly in the clinic. However, performance testing is currently complicated by the paucity of standards and comparison metrics, as well as by the heterogeneity in sequencing platforms, applications and protocols. Here we present the genome comparison and analytic testing (GCAT)...

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PMID: 25711446
DOI: 10.1038/ncomms7275
PMCID: PMC4351570

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GCAT

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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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