Article

A direct multi-generational estimate of the human mutation rate from autozygous segments seen in thousands of parentally related individuals

2016-06-17

Abstract excerpt

Heterozygous mutations within homozygous sequences descended from a recent common ancestor offer a way to ascertain de novo mutations (DNMs) across multiple generations. Using exome sequences from 3,222 British-Pakistani individuals with high parental relatedness, we estimate a mutation rate of 1. 45 ± 0.05 × 10 −8 per base pair per generation in autosomal coding sequence, with a corresponding noncrossover gene c...

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Literature Corpus work: 56c01f53-7c01-5dc6-b3fa-3efa9914c3c4
DOI: 10.1101/059436

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