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

Volume: 116, Issue: 36, Pages: 17916 - 17924
Published: Sep 3, 2019
Abstract
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 (Genome Aggregation Database, gnomAD) of 13,860 human X chromosomes and autosomes. X-autosome differences are reflective of germline sex...
Paper Details
Title
Signatures of replication timing, recombination, and sex in the spectrum of rare variants on the human X chromosome and autosomes.
Published Date
Sep 3, 2019
Volume
116
Issue
36
Pages
17916 - 17924
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