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De novo mutation rates at the single-mutation resolution in a human HBB gene-region associated with adaptation and genetic disease

2021-05-24

Abstract excerpt

While it is known that the mutation rate varies across the genome, previous estimates were based on averaging across various numbers of positions. Here we describe a method to measure the origination rates of target mutations at target base positions and apply it to a 6-bp region in the human β -globin ( HBB ) gene and to the identical, homologous δ -globin ( HBD ) region in sperm cells from both African and E...

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Literature Corpus work: a3c9228c-fab1-5c98-88ea-5d494c9be9c5
DOI: 10.1101/2021.05.24.443729

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<i>De novo</i> mutation rates at the single-mutation resolution in a human <i>HBB</i> gene-region associated with adaptation and genetic disease

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