Article

Insights into the causes and consequences of DNA repeat expansions from 700,000 biobank participants

2024-11-26

Abstract excerpt

Expansions and contractions of tandem DNA repeats are a source of genetic variation in human populations and in human tissues: some expanded repeats cause inherited disorders, and some are also somatically unstable. We analyzed DNA sequence data, derived from the blood cells of >700,000 participants in UK Biobank and the All of Us Research Program, and developed new computational approaches to recognize, measure...

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Literature Corpus work: 79938ec2-3c4b-571e-8bf6-1a5291a52e8e
DOI: 10.1101/2024.11.25.625248

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