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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

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