Human de novo mutation rates from a four-generation pedigree reference

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2025-04-24 13:16:37 - Μετάφραση -

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Nature, Published online: 23 April 2025; doi:10.1038/s41586-025-08922-2Analysis of more than 95% of each diploid human genome of a four-generation, twenty-eight-member family using five complementary short-read and long-read sequencing technologies provides a truth set to understand the most fundamental processes underlying human genetic variation.

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