Targeted genotyping of variable number tandem repeats with adVNTR

Whole-genome sequencing is increasingly used to identify Mendelian variants in clinical pipelines. These pipelines focus on single-nucleotide variants (SNVs) and also structural variants, while ignoring more complex repeat sequence variants. Here, we consider the problem of genotyping Variable Numbe...

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Detalles Bibliográficos
Autores principales: Bakhtiari, Mehrdad, Shleizer-Burko, Sharona, Gymrek, Melissa, Bansal, Vikas, Bafna, Vineet
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2018
Materias:
Method
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6211647/
https://www.ncbi.nlm.nih.gov/pubmed/30352806
http://dx.doi.org/10.1101/gr.235119.118

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6211647/
https://www.ncbi.nlm.nih.gov/pubmed/30352806
http://dx.doi.org/10.1101/gr.235119.118

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