A machine-learning approach for accurate detection of copy number variants from exome sequencing

Copy number variants (CNVs) are a major cause of several genetic disorders, making their detection an essential component of genetic analysis pipelines. Current methods for detecting CNVs from exome-sequencing data are limited by high false-positive rates and low concordance because of inherent bias...

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Detalles Bibliográficos
Autores principales: Pounraja, Vijay Kumar, Jayakar, Gopal, Jensen, Matthew, Kelkar, Neil, Girirajan, Santhosh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2019
Materias:
Method
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6633262/
https://www.ncbi.nlm.nih.gov/pubmed/31171634
http://dx.doi.org/10.1101/gr.245928.118

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6633262/
https://www.ncbi.nlm.nih.gov/pubmed/31171634
http://dx.doi.org/10.1101/gr.245928.118

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