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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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:BMC Genomics
Egile Nagusiak: van den Akker, Jeroen, Mishne, Gilad, Zimmer, Anjali D., Zhou, Alicia Y.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: BioMed Central 2018
Gaiak:
Sarrera elektronikoa: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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