Article

Genome-wide survey of tandem repeats by nanopore sequencing shows that disease-associated repeats are more polymorphic in the general population

2019-12-20

Abstract excerpt

Tandem repeats are highly mutable and contribute to the development of human disease by a variety of mechanisms. However, it is difficult to predict which tandem repeats may cause a disease. We performed a genome-wide survey of the millions of human tandem repeats using long read genome sequencing data from 16 humans. We found that known Mendelian disease-causing or disease-associated repeats, especially coding CA...

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Literature Corpus work: 4545ff1a-4726-591b-b6a7-18065059e761
DOI: 10.1101/2019.12.19.883389

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