Article

Population-scale variability at short tandem repeat loci reveals pathogenicity signature

2025-01-07

Abstract excerpt

<h4>Summary</h4> Short tandem repeat (STR) instability is a major cause of disease association, yet their full length-distributions and sequence content have been difficult to resolve with short-read sequencing. By analyzing long-read sequencing genomes from 2,645 participants of the All of Us Research Program, we establish a comprehensive STR resource of 23 billion alleles covering a catalog of 4.4 million loci...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 83aeb0d9-be7c-56f0-898d-a5ea5a69de2d
DOI: 10.1101/2025.01.06.631535

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Population-scale variability at short tandem repeat loci reveals pathogenicity signatureDOI 10.1101/2025.01.06.631535Read

Population-scale disease-associated tandem repeat analysis reveals locus and ancestry-specific insightsSemantic proximity Read

Characterization of genome-wide STR variation in 6487 human genomes.Semantic proximity Read

Analysis of Tandem Repeats in Short-Read Sequencing Data: From Genotyping Known Pathogenic Repeats to Discovering Novel Expansions.Semantic proximity Read

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

Sequencing and characterizing short tandem repeats in the human genome.Semantic proximity Read

Characterizing nucleotide variation and expansion dynamics in human-specific variable number tandem repeatsSemantic proximity Read

Genome-wide Survey of Tandem Repeats by Nanopore Sequencing Shows that Disease-associated Repeats are More Polymorphic in the General PopulationSemantic proximity Read

The Landscape of Human STR VariationSemantic proximity Read

A comprehensive tandem repeat catalog of the human genomeSemantic proximity Read

Profiling the genome-wide landscape of tandem repeat expansionsSemantic proximity Read

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

Profiling of Short-Tandem-Repeat Disease Alleles in 12,632 Human Whole Genomes.Semantic proximity Read