Rapid detection of expanded short tandem repeats in personal genomics using hybrid sequencing

Motivation: Long expansions of short tandem repeats (STRs), i.e. DNA repeats of 2–6 nt, are associated with some genetic diseases. Cost-efficient high-throughput sequencing can quickly produce billions of short reads that would be useful for uncovering disease-associated STRs. However, enumerating S...

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Detalles Bibliográficos
Autores principales: Doi, Koichiro, Monjo, Taku, Hoang, Pham H., Yoshimura, Jun, Yurino, Hideaki, Mitsui, Jun, Ishiura, Hiroyuki, Takahashi, Yuji, Ichikawa, Yaeko, Goto, Jun, Tsuji, Shoji, Morishita, Shinichi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2014
Materias:
Original Papers
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3957077/
https://www.ncbi.nlm.nih.gov/pubmed/24215022
http://dx.doi.org/10.1093/bioinformatics/btt647

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3957077/
https://www.ncbi.nlm.nih.gov/pubmed/24215022
http://dx.doi.org/10.1093/bioinformatics/btt647

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