Article

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

2020-03-23

Abstract excerpt

<h4>Background: </h4> 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 analyse these repeats at large scale; however, accurate genotyping is still a challenging task. We compared fou...

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Literature Corpus work: 7ed7e110-6c3c-528d-aed8-5b76efcded4e
DOI: 10.12688/f1000research.22639.1

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