Extremely rare variants reveal patterns of germline mutation rate heterogeneity in humans

oleh: Jedidiah Carlson, Adam E. Locke, Matthew Flickinger, Matthew Zawistowski, Shawn Levy, Richard M. Myers, Michael Boehnke, Hyun Min Kang, Laura J. Scott, Jun Z. Li, Sebastian Zöllner, The BRIDGES Consortium

Format: Article
Diterbitkan: Nature Portfolio 2018-09-01

Deskripsi

Germline mutation rate is a critical parameter in the study of genetics and evolution. Here, Carlson et al. infer fine-scale patterns of human mutation rate heterogeneity by analyzing ~36 million singleton variants from 3560 whole-genome sequences.