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Article

Determining Performance Metrics for Targeted Next-Generation Sequencing Panels Using Reference Materials.

The Journal of molecular diagnostics : JMD - 1 Sept 2018

Cleveland Megan H, Zook Justin M, Salit Marc, Vallone Peter M

Abstract excerpt

The National Institute of Standards and Technology has developed reference materials for five human genomes. DNA aliquots are available for purchase, and the data, analyses, and high-confidence small variant and homozygous reference calls are freely available on the web. These reference materials are useful for evaluating whole-genome sequencing methods and also can be used to benchmark targeted sequencing...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 29959024
DOI: 10.1016/j.jmoldx.2018.04.005
PMCID: PMC6172655

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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