Article

Signatures of replication timing, recombination and sex in the spectrum of rare variants on the human X chromosome and autosomes

2019-01-15

Abstract excerpt

The sources of human germline mutations are poorly understood. Part of the difficulty is that mutations occur very rarely, and so direct pedigree-based approaches remain limited in the numbers that they can examine. To address this problem, we consider the spectrum of low frequency variants in a dataset (gnomAD) of 13,860 human X chromosomes and autosomes. X-autosome differences are reflective of germline sex diff...

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Literature Corpus work: 09e4a60e-6e72-595c-bde1-dc0ca6b7c8f4
DOI: 10.1101/519421

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