The mutational constraint spectrum quantified from variation in 141,456 humansKonrad J. Karczewski, Christopher Llanwarne, Arcturus Wang et al.|Nature|2020Cited by 10.2k
The mutational constraint spectrum quantified from variation in 141,456 humansKonrad J. Karczewski, Christopher Llanwarne, Laurent C. Francioli et al.|bioRxiv (Cold Spring Harbor Laboratory)|2019Cited by 1.8k
A genomic mutational constraint map using variation in 76,156 human genomesSiwei Chen, Lori L. Bonnycastle, Laurent C. Francioli et al.|Nature|2023Cited by 1.3k
A structural variation reference for medical and population geneticsRyan L. Collins, Thibault Jeandet, Harrison Brand et al.|Nature|2020Cited by 1.2k
Transcript expression-aware annotation improves rare variant interpretationBeryl B. Cummings, Molly Schleicher, Konrad J. Karczewski et al.|Nature|2020Cited by 202