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

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...

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Detalhes bibliográficos
Publicado no:BMC Genomics
Main Authors: van den Akker, Jeroen, Mishne, Gilad, Zimmer, Anjali D., Zhou, Alicia Y.
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2018
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5904977/
https://ncbi.nlm.nih.gov/pubmed/29665779
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12864-018-4659-0
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