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Accuracy of short tandem repeats genotyping tools in whole exome sequencing data

Background: Short tandem repeats are an important source of genetic variation. They are highly mutable and repeat expansions are associated dozens of human disorders, such as Huntington's disease and spinocerebellar ataxias. Technical advantages in sequencing technology have made it possible to...

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Xehetasun bibliografikoak
Argitaratua izan da:F1000Res
Egile Nagusiak: Halman, Andreas, Oshlack, Alicia
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: F1000 Research Limited 2020
Gaiak:
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC7327730/
https://ncbi.nlm.nih.gov/pubmed/32665844
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.12688/f1000research.22639.1
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