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

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 (www.genomeinabottle.org, last...

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Bibliografiske detaljer
Udgivet i:J Mol Diagn
Main Authors: Cleveland, Megan H., Zook, Justin M., Salit, Marc, Vallone, Peter M.
Format: Artigo
Sprog:Inglês
Udgivet: 2018
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6172655/
https://ncbi.nlm.nih.gov/pubmed/29959024
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jmoldx.2018.04.005
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