Research graph
References from Phenotypes of ultra-rare variant carriers benchmark variant effect scores. Local targets link to admitted publications; unresolved targets remain external evidence.
10.1038/s41586-020-2267-z
10.1038/s41586-020-2267-z · External reference
10.1016/j.ajhg.2010.04.005
10.1016/j.ajhg.2010.04.005 · External reference
10.1038/s41525-024-00396-x
10.1038/s41525-024-00396-x · External reference
10.1016/j.gim.2023.100896
10.1016/j.gim.2023.100896 · External reference
10.1007/s00439-022-02457-6
10.1007/s00439-022-02457-6 · External reference
10.1101/gr.097857.109
10.1101/gr.097857.109 · External reference
10.1371/journal.pcbi.1001025
10.1371/journal.pcbi.1001025 · External reference
10.1038/s41588-023-01465-0
10.1038/s41588-023-01465-0 · External reference
Expanding the scope of protein language modeling to protein-protein interactions with MSA Pairformer
10.1016/j.cell.2026.06.029 · 2026 · External reference
10.1038/s41588-025-02347-3
10.1038/s41588-025-02347-3 · External reference
A DNA language model based on multispecies alignment predicts the effects of genome-wide variants
10.1038/s41587-024-02511-w · 2025 · External reference
10.1038/s41586-026-11005-5
10.1038/s41586-026-11005-5 · External reference
10.1038/s41588-024-02053-6
10.1038/s41588-024-02053-6 · External reference
Predicting expression-altering promoter mutations with deep learning
2025 · External reference
10.1038/s41586-025-10014-0
10.1038/s41586-025-10014-0 · External reference
10.1016/j.cell.2018.12.015
10.1016/j.cell.2018.12.015 · External reference
10.1186/s13059-022-02664-4
10.1186/s13059-022-02664-4 · External reference
10.1038/s41588-023-01373-3
10.1038/s41588-023-01373-3 · External reference
10.1186/s13059-022-02811-x
10.1186/s13059-022-02811-x · External reference
10.1126/science.adg7492
10.1126/science.adg7492 · External reference
The landscape of tolerated genetic variation in humans and primates
10.1126/science.abn8197 · 2023 · External reference
10.1038/ng.2892
10.1038/ng.2892 · External reference
Unresolved reference
External reference
10.1093/nar/gkt1113
10.1093/nar/gkt1113 · External reference
10.1101/2025.02.11.637758
10.1101/2025.02.11.637758 · External reference
Data biases in genomics
10.1016/j.tig.2026.02.007 · 2026 · External reference
10.1038/gim.2015.30
10.1038/gim.2015.30 · External reference
10.1186/s13073-022-01073-3
10.1186/s13073-022-01073-3 · External reference
10.1038/nmeth.3027
10.1038/nmeth.3027 · External reference
10.1038/s41576-025-00870-x
10.1038/s41576-025-00870-x · External reference
Unresolved reference
External reference
Updated benchmarking of variant effect predictors using deep mutational scanning
10.15252/msb.202211474 · 2023 · External reference
10.1016/j.ajhg.2017.06.005
10.1016/j.ajhg.2017.06.005 · External reference
10.1126/science.aax3710
10.1126/science.aax3710 · External reference
10.1186/s13059-024-03314-7
10.1186/s13059-024-03314-7 · External reference
10.1101/2024.01.12.24301193
10.1101/2024.01.12.24301193 · External reference
10.1038/s41586-018-0579-z
10.1038/s41586-018-0579-z · External reference
Whole-genome sequencing of 490,640 UK Biobank participants
10.1038/s41586-025-09272-9 · 2025 · External reference
10.1038/s41586023-06592-6
10.1038/s41586023-06592-6 · External reference
10.1016/j.xgen.2022.100168
10.1016/j.xgen.2022.100168 · External reference
10.1038/s41586-020-2308-7
10.1038/s41586-020-2308-7 · External reference
10.1038/s41588-021-00870-7
10.1038/s41588-021-00870-7 · External reference
PROTRIDER: protein abundance outlier detection from mass spectrometry-based proteomics data with a conditional autoencoder
10.1093/bioinformatics/btaf628 · 2025 · External reference
10.1186/s13059-023-03024-6
10.1186/s13059-023-03024-6 · External reference
10.1101/2021.07.09.450648
10.1101/2021.07.09.450648 · External reference
10.1016/j.ajhg.2016.08.016
10.1016/j.ajhg.2016.08.016 · External reference
10.1093/bioinformatics/btaf467
10.1093/bioinformatics/btaf467 · External reference
10.1038/s41467-025-58210-w
10.1038/s41467-025-58210-w · External reference
10.1038/s41586-021-04043-8
10.1038/s41586-021-04043-8 · External reference
10.1016/j.ajhg.2018.08.005
10.1016/j.ajhg.2018.08.005 · External reference
10.1002/0471142905.hg0720s76
10.1002/0471142905.hg0720s76 · External reference
10.1002/humu.23158
10.1002/humu.23158 · External reference
10.1093/nar/gkad989
10.1093/nar/gkad989 · External reference
10.1002/humu.22768
10.1002/humu.22768 · External reference
10.1016/j.cell.2024.01.023
10.1016/j.cell.2024.01.023 · External reference
10.1038/s41588-023-01529-1
10.1038/s41588-023-01529-1 · External reference
10.1126/science.adq4946
10.1126/science.adq4946 · External reference
10.1093/nar/gkae969
10.1093/nar/gkae969 · External reference
LCD-Composer: an intuitive, composition-centric method enabling the identification and detailed functional mapping of low-complexity domains
10.1093/nargab/lqab048 · 2021 · External reference
10.1101/2025.04.07.647656
10.1101/2025.04.07.647656 · External reference
10.1038/s41586-020-2493-4
10.1038/s41586-020-2493-4 · External reference
10.1038/s41588-025-02400-1
10.1038/s41588-025-02400-1 · External reference
10.1093/nar/gkg509
10.1093/nar/gkg509 · External reference
10.64898/2026.03.23.26349081
10.64898/2026.03.23.26349081 · External reference
10.1038/s41586-024-07050-7
10.1038/s41586-024-07050-7 · External reference
10.64898/2026.05.08.26350964
10.64898/2026.05.08.26350964 · External reference
10.1038/nbt.2106
10.1038/nbt.2106 · External reference
A structurally informed human protein–protein interactome reveals proteome-wide perturbations caused by disease mutations
10.1038/s41587-024-02428-4 · 2025 · External reference
10.1371/journal.pcbi.1013400 · 2025 · Admitted local publication
10.1038/s41586-021-03819-2
10.1038/s41586-021-03819-2 · External reference
The functional landscape of coding variation in the familial hypercholesterolemia gene LDLR
2025 · External reference
10.1186/s13059-023-02935-8
10.1186/s13059-023-02935-8 · External reference
10.1186/s13059-024-03238-2
10.1186/s13059-024-03238-2 · External reference
10.1016/j.ajhg.2018.03.018
10.1016/j.ajhg.2018.03.018 · External reference
10.1038/ng.3700
10.1038/ng.3700 · External reference
10.1186/s13059-025-03575-w
10.1186/s13059-025-03575-w · External reference
10.1038/s41598-019-54849-w
10.1038/s41598-019-54849-w · External reference
10.1101/2025.11.04.686320
10.1101/2025.11.04.686320 · External reference
10.1186/s13059-024-03223-9
10.1186/s13059-024-03223-9 · External reference
Whole-genome sequencing analysis of anthropometric traits in 672,976 individuals reveals convergence between rare and common genetic associations
10.1038/s41467-026-69208-3 · 2026 · External reference
10.1101/2025.11.06.686913
10.1101/2025.11.06.686913 · External reference
10.1093/gigascience/giab008
10.1093/gigascience/giab008 · External reference
10.1186/s13059-016-0974-4
10.1186/s13059-016-0974-4 · External reference
10.1093/nar/gkaa1087
10.1093/nar/gkaa1087 · External reference
10.1038/s41586-022-04558-8
10.1038/s41586-022-04558-8 · External reference
10.1093/nar/gks1058
10.1093/nar/gks1058 · External reference
10.1093/bioinformatics/btq671
10.1093/bioinformatics/btq671 · External reference
10.1038/s41592-024-02409-0
10.1038/s41592-024-02409-0 · External reference
10.1186/s13742-015-0047-8
10.1186/s13742-015-0047-8 · External reference
10.1111/j.2517-6161.1995.tb02031.x)
10.1111/j.2517-6161.1995.tb02031.x) · External reference
10.2307/1907330
10.2307/1907330 · External reference
10.2307/2283327
10.2307/2283327 · External reference
10.1038/s41586-023-06957-x
10.1038/s41586-023-06957-x · External reference
10.1017/cbo9780511802843
10.1017/cbo9780511802843 · External reference
10.5281/zenodo.22826446
10.5281/zenodo.22826446 · External reference
