Article

Human acrocentric chromosome short arm <i>de novo</i> mutation and recombination

2025-12-17

Abstract excerpt

<h4>ABSTRACT</h4> The extraordinary repetitive content of human acrocentric short arms has prevented detailed investigations into recombination and de novo mutation. Integrating multiple sequencing technologies, we created 156 phased short arms and assessed 107 intergenerational transmissions from 23 samples in a four-generation pedigree. We observed a significant depletion ( P <0.0001) of p-arm allelic recombi...

Topics

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

Identifiers and source

Literature Corpus work: c4b5868d-381f-567b-9515-46787ee7fb06
DOI: 10.64898/2025.12.16.694519

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Human acrocentric chromosome short arm <i>de novo</i> mutation and recombinationDOI 10.64898/2025.12.16.694519Read

Human acrocentric chromosome short-arm de novo mutation and recombination.Semantic proximity Read

Biobank-scale genotyping of Robertsonian translocations reveals hidden structural variation on the human acrocentric chromosomesSemantic proximity Read

Human Structural Variation: Mechanisms of Chromosome Rearrangements.Semantic proximity Read

A familial, telomere-to-telomere reference for human <i>de novo</i> mutation and recombination from a four-generation pedigreeSemantic proximity Read

Complete genomes of a multi-generational pedigree to expand studies of genetic and epigenetic inheritanceSemantic proximity Read

Genomic disorders 20 years on-mechanisms for clinical manifestations.Semantic proximity Read

Length asymmetry and heterozygosity strongly influences the evolution of poly-A microsatellites at meiotic recombination hotspotsSemantic proximity Read

Mosaic chromosomal alterations in blood across ancestries using whole-genome sequencingSemantic proximity Read

Analysis of deletion breakpoints from 1,092 humans reveals details of mutation mechanisms.Semantic proximity Read

Mechanisms for recurrent and complex human genomic rearrangements.Semantic proximity Read

Circular DNA in the human germline and its association with recombination.Semantic proximity Read

New insights into the evolution of human Y chromosome palindromes through mutation and gene conversion.Semantic proximity Read