Article

False Negatives Are a Significant Feature of Next Generation Sequencing Callsets

2016-07-26

Abstract excerpt

Short-read, next-generation sequencing (NGS) is now broadly used to identify rare or de novo mutations in population samples and disease cohorts. However, NGS data is known to be error-prone and post-processing pipelines have primarily focused on the removal of spurious mutations or “false positives” for downstream genome datasets. Less attention has been paid to characterizing the fraction of missing mutations o...

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Literature Corpus work: 52003a05-27b2-55f2-940a-5f3d356bd904
DOI: 10.1101/066043

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