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Genome-wide detection of short tandem repeat expansions by long-read sequencing

BACKGROUND: Short tandem repeat (STR), or “microsatellite”, is a tract of DNA in which a specific motif (typically < 10 base pairs) is repeated multiple times. STRs are abundant throughout the human genome, and specific repeat expansions may be associated with human diseases. Long-read sequencing...

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Bibliografiske detaljer
Udgivet i:BMC Bioinformatics
Main Authors: Liu, Qian, Tong, Yao, Wang, Kai
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2020
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7768641/
https://ncbi.nlm.nih.gov/pubmed/33371889
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12859-020-03876-w
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