Article

DNA from dried blood spots yields high quality sequences for exome analysis

2020-05-20

Abstract excerpt

<h4>Background</h4> DNA sequencing of archived dried blood spots (DBS) collected by newborn screening programs constitutes a potential health resource to study newborn disorders and understand genotype-phenotype relationships. However, its essential to verify that sequencing reads from DBS derived DNA are suitable for variant discovery. <h4>Results</h4> We explored 16 metrics to comprehensively assess the qualit...

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Literature Corpus work: f1dd3bd6-49b9-5567-8746-3b658e1b0108
DOI: 10.1101/2020.05.19.105304

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