Article

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

2024-08-05

Abstract excerpt

<h4>ABSTRACT</h4> Using five complementary short- and long-read sequencing technologies, we phased and assembled >95% of each diploid human genome in a four-generation, 28-member family (CEPH 1463) allowing us to systematically assess de novo mutations (DNMs) and recombination. From this family, we estimate an average of 192 DNMs per generation, including 75.5 de novo single-nucleotide variants (SNVs), 7.4 non-...

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Literature Corpus work: f4a3093d-b176-5d82-964f-caf78a84ddd2
DOI: 10.1101/2024.08.05.606142

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A familial, telomere-to-telomere reference for human <i>de novo</i> mutation and recombination from a four-generation pedigreeDOI 10.1101/2024.08.05.606142Read

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