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Nature|December 6, 2023
A genomic mutational constraint map using variation in 76,156 human genomesSiwei Chen, Laurent C Francioli, Julia K Goodrich, et al.Cell Genomics|February 13, 2023
Systematic single-variant and gene-based association testing of thousands of phenotypes in 394,841 UK Biobank exomesKonrad J Karczewski, Matthew Solomonson, Katherine R Chao, et al.American Journal of Human Genetics|August 18, 2023
Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomaliesChelsea Lowther, Elise Valkanas, Jessica L Giordano, et al.Nature|May 29, 2020
A structural variation reference for medical and population geneticsRyan L Collins, Harrison Brand, Konrad J Karczewski, et al.Medrxiv : the Preprint Server for Health Sciences|April 3, 2026
Integrating 730,947 exome sequences with clinical literature improves gene discoveryJeremy Guez, Julia K Goodrich, Mikhail A Moldovan, et al.Nature|May 29, 2020
The mutational constraint spectrum quantified from variation in 141,456 humansKonrad J Karczewski, Laurent C Francioli, Grace Tiao, et al.Pageof 13