Article

A comprehensive tandem repeat catalog of the human genome

2024-06-20

Abstract excerpt

With the increasing availability of long-read sequencing data, high-quality human genome assemblies, and software for fully characterizing tandem repeats, genome-wide genotyping of tandem repeat loci on a population scale becomes more feasible. Such efforts not only expand our knowledge of the tandem repeat landscape in the human genome but also enhance our ability to differentiate pathogenic tandem repeat mutatio...

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Literature Corpus work: 162d81f7-0277-5b9d-8548-a4d6b7884cd2
DOI: 10.1101/2024.06.19.24309173

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