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GROM-RD: resolving genomic biases to improve read depth detection of copy number variants

Amplifications or deletions of genome segments, known as copy number variants (CNVs), have been associated with many diseases. Read depth analysis of next-generation sequencing (NGS) is an essential method of detecting CNVs. However, genome read coverage is frequently distorted by various biases of...

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Detalles Bibliográficos
Autores principales: Smith, Sean D., Kawash, Joseph K., Grigoriev, Andrey
Formato: Online Artículo Texto
Lenguaje:English
Publicado: PeerJ Inc. 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4369336/
https://www.ncbi.nlm.nih.gov/pubmed/25802807
http://dx.doi.org/10.7717/peerj.836