GenomicsbioRxivPreprint
Population-scale variability at short tandem repeat loci reveals pathogenicity signature
Matt Christopher Danzi, Isaac R. L. Xu, Sarah Fazal…·Stephan L. Zuchner
The paper uses long-read sequencing data to analyze STR variability across 2,645 individuals, identifying disease-associated STR loci with elevated allelic variability and introducing the PLVI metric.
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