Recent advances in the detection of repeat expansions with short-read next-generation sequencing [version 1; referees: 3 approved]

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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Bibliographic Details
Main Authors: Melanie Bahlo, Mark F Bennett, Peter Degorski, Rick M Tankard, Martin B Delatycki, Paul J Lockhart
Format: Article
Language:English
Published: F1000 Research Ltd 2018-06-01
Series:F1000Research
Online Access:https://f1000research.com/articles/7-736/v1