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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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Pubblicato in:BMC Genomics
Autori principali: van den Akker, Jeroen, Mishne, Gilad, Zimmer, Anjali D., Zhou, Alicia Y.
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2018
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Accesso online: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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