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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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Detalhes bibliográficos
Publicado no:F1000Res
Main Authors: Bahlo, Melanie, Bennett, Mark F, Degorski, Peter, Tankard, Rick M, Delatycki, Martin B, Lockhart, Paul J
Formato: Artigo
Idioma:Inglês
Publicado em: F1000 Research Limited 2018
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6008857/
https://ncbi.nlm.nih.gov/pubmed/29946432
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.12688/f1000research.13980.1
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