Challenges in detecting genomic copy number aberrations using next-generation sequencing data and the eXome Hidden Markov Model: a clinical exome-first diagnostic approach

Next-generation sequencing (NGS) is widely used for the detection of disease-causing nucleotide variants. The challenges associated with detecting copy number variants (CNVs) using NGS analysis have been reported previously. Disease-related exome panels such as Illumina TruSight One are more cost-ef...

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Detalhes bibliográficos
Publicado no:Hum Genome Var
Main Authors: Yamamoto, Toshiyuki, Shimojima, Keiko, Ondo, Yumiko, Imai, Katsumi, Chong, Pin Fee, Kira, Ryutaro, Amemiya, Mitsuhiro, Saito, Akira, Okamoto, Nobuhiko
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2016
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4989049/
https://ncbi.nlm.nih.gov/pubmed/27579173
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2016.25
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