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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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Vydáno v:BMC Bioinformatics
Hlavní autoři: Liu, Qian, Tong, Yao, Wang, Kai
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2020
Témata:
On-line přístup: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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