Extremely rare variants reveal patterns of germline mutation rate heterogeneity in humans
Jedidiah Carlson, Adam E. Locke, Matthew Flickinger, Matthew Zawistowski, Shawn Levy, R Myers, Michael Boehnke, Hyun Min Kang, Laura J. Scott, Jun Z. Li, Sebastian K. Zöllner, Devin Absher, Huda Akil, Gerome D. Breen, Margit Burmeister, , Stanley J. Watson
The paper analyzes rare variants to uncover mutation rate heterogeneity in the human genome, identifying genomic features that influence mutation rates.
Nature Communications · Sep 10, 2018Peer-reviewedGenetics