Article
Human acrocentric chromosome short-arm de novo mutation and recombination.
Cell - 6 Aug 2026
Lin Jiadong, Mastrorosa F Kumara, Noyes Michelle D, Yoo DongAhn, Rhie Arang, Porubsky David, Hoekzema Kendra, Munson Katherine M, Koundinya Nidhi, Watkins W Scott, Jorde Lynn B, Quinlan Aaron R, Neklason Deborah W, Phillippy Adam M, Eichler Evan E
Abstract excerpt
Highly repetitive short arms of human acrocentric chromosomes have remained largely inaccessible to studies of meiotic recombination and de novo mutation. Integrating long-read and complementary sequencing approaches, we created 156 phased short arms and assessed 107 transmissions from 23 samples in a four-generation human pedigree. We observed a significant depletion of p-arm allelic recombination, although one...
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