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Article

A machine learning model to determine the accuracy of variant calls in capture-based next generation sequencing.

BMC genomics - 17 Apr 2018

van den Akker Jeroen, Mishne Gilad, Zimmer Anjali D, Zhou Alicia Y

Abstract excerpt

BACKGROUND: Next generation sequencing (NGS) has become a common technology for clinical genetic tests. The quality of NGS calls varies widely and is influenced by features like reference sequence characteristics, read depth, and mapping accuracy. With recent advances in NGS technology and software tools, the majority of variants called using NGS alone are in fact accurate and reliable. However, a small subset of...

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Identifiers

PMID: 29665779
DOI: 10.1186/s12864-018-4659-0
PMCID: PMC5904977

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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