The mutational constraint spectrum quantified from variation in 141,456 humansKonrad J. Karczewski, Christopher Llanwarne, Yossi Farjoun et al.|Nature|2020Cited by 10.2k
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A structural variation reference for medical and population geneticsRyan L. Collins, Thibault Jeandet, Harrison Brand et al.|Nature|2020Cited by 1.2k
The ExAC browser: displaying reference data information from over 60 000 exomesKonrad J. Karczewski, Daniel G. MacArthur, Ben Weisburd et al.|Nucleic Acids Research|2016Cited by 832
Transcript expression-aware annotation improves rare variant interpretationBeryl B. Cummings, Molly Schleicher, Konrad J. Karczewski et al.|Nature|2020Cited by 202