Ontology highlight
ABSTRACT:
SUBMITTER: Carlson J
PROVIDER: S-EPMC6138700 | biostudies-other | 2018 Sep
REPOSITORIES: biostudies-other
Carlson Jedidiah J Locke Adam E AE Flickinger Matthew M Zawistowski Matthew M Levy Shawn S Myers Richard M RM Boehnke Michael M Kang Hyun Min HM Scott Laura J LJ Li Jun Z JZ Zöllner Sebastian S
Nature communications 20180914 1
A detailed understanding of the genome-wide variability of single-nucleotide germline mutation rates is essential to studying human genome evolution. Here, we use ~36 million singleton variants from 3560 whole-genome sequences to infer fine-scale patterns of mutation rate heterogeneity. Mutability is jointly affected by adjacent nucleotide context and diverse genomic features of the surrounding region, including histone modifications, replication timing, and recombination rate, sometimes suggest ...[more]