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Recent advances in the detection of repeat expansions with short-read next-generation sequencing

Short tandem repeats (STRs), also known as microsatellites, are commonly defined as consisting of tandemly repeated nucleotide motifs of 2–6 base pairs in length. STRs appear throughout the human genome, and about 239,000 are documented in the Simple Repeats Track available from the UCSC (University...

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Detalles Bibliográficos
Autores principales: Bahlo, Melanie, Bennett, Mark F, Degorski, Peter, Tankard, Rick M, Delatycki, Martin B, Lockhart, Paul J
Formato: Online Artículo Texto
Lenguaje:English
Publicado: F1000 Research Limited 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6008857/
https://www.ncbi.nlm.nih.gov/pubmed/29946432
http://dx.doi.org/10.12688/f1000research.13980.1