Analysis of protein-coding genetic variation in 60,706 humansMonkol Lek, David Altshuler, Jack A. Kosmicki et al.|Nature|2016Cited by 10.3k
The mutational constraint spectrum quantified from variation in 141,456 humansKonrad J. Karczewski, Christopher Llanwarne, Laurent C. Francioli 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
Transcript expression-aware annotation improves rare variant interpretationBeryl B. Cummings, Molly Schleicher, Konrad J. Karczewski et al.|Nature|2020Cited by 202
Analysis of protein-coding genetic variation in 60,706 humansMonkol Lek, David Altshuler, Konrad J. Karczewski et al.|bioRxiv (Cold Spring Harbor Laboratory)|2015Cited by 143