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A genomic mutational constraint map using variation in 76,156 human genomes
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Abstract
The depletion of disruptive variation caused by purifying natural selection (constraint) has been widely used to investigate protein-coding genes underlying human disorders 1-4, but attempts to assess constraint for non-protein-coding regions have proved more difficult. Here we aggregate, process and release a dataset of 76,156 human genomes from the Genome Aggregation Database (gnomAD)-the largest public open-access human genome allele frequency reference dataset-and use it to build a genomic constraint map for the whole genome (genomic non-coding constraint of haploinsufficient variation (Gnocchi)). We present a refined mutational model that incorporates local sequence context and regional genomic features to detect depletions of variation. As expected, the average constraint for protein-coding sequences is stronger than that for non-coding regions. Within the non-coding genome, constrained regions are enriched for known regulatory elements and variants that are implicated in complex human diseases and traits, facilitating the triangulation of biological annotation, disease association and natural selection to non-coding DNA analysis. More constrained regulatory elements tend to regulate more constrained protein-coding genes, which in turn suggests that non-coding constraint can aid the identification of constrained genes that are as yet unrecognized by current gene constraint metrics. We demonstrate that this genome-wide constraint map improves the identification and interpretation of functional human genetic variation.
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“Neutral, non-disease causing SALL1 variants (predicted loss-of-function, pLoF) were obtained from the gnomAD 48 database (v4.1.0, https://gnomad.broadinstitute.org/), with the following selection criteria: >2 cases found for each specific variant, no flag associated with dubious sequencing quality or possible pathogenicity.”
From Tetramerisation governs SALL transcription factor function in development and disease (2025) · cites this paper as [48]
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“we found that SALL1 is depleted of similar mutations in the healthy population, as a gnomAD 48 database (v4.1.0, https://gnomad.broadinstitute.org/) search identified only three variants, all at the C-terminus of the protein after SALL1 ZFC4”
From Tetramerisation governs SALL transcription factor function in development and disease (2025) · cites this paper as [48]
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“We note that there are many SNPs common (>5%) in these Polynesian sequences that are entirely absent from gnomAD (Fig. 1B) (6).”
From Message in a bottleneck: Nested founder effects from French Polynesia to Rapa Nui and Hawaiʻi (2026) · cites this paper as [6]
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“For inclusion on these population-specific screening panels, the ACMG recommends a carrier frequency of >1/200 (5, 6).”
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Citations
Cites
BEDTools: a flexible suite of utilities for comparing genomic features
Quinlan, A. R., & Hall, I. M. (2010) · Bioinformatics · doi:10.1093/bioinformatics/btq033 · Cited by 27,437
A global reference for human genetic variation
The 1000 Genomes Project Consortium, authors, C., Auton, A., Abecasis, G. R., Steering committee, Altshuler, D. M., Durbin, R. M., Abecasis, G. R., Bentley, D. R., Chakravarti, A., et al. (2015) · Nature · doi:10.1038/nature15393 · Cited by 18,247
Self-citationpROC: an open-source package for R and S+ to analyze and compare ROC curves
Robin, X., Turck, N., Hainard, A., Tiberti, N., Lisacek, F., Sanchez, J.-C., & Müller, M. (2011) · BMC Bioinformatics · doi:10.1186/1471-2105-12-77 · Cited by 13,697
Analysis of protein-coding genetic variation in 60,706 humans
Exome Aggregation Consortium, Lek, M., Karczewski, K. J., Minikel, E. V., Samocha, K. E., Banks, E., Fennell, T., O’Donnell-Luria, A. H., Ware, J. S., Hill, A. J., et al. (2016) · Nature · doi:10.1038/nature19057 · Cited by 9,587
Self-citationThe mutational constraint spectrum quantified from variation in 141,456 humans
Karczewski, K. J., Francioli, L. C., Tiao, G., Cummings, B. B., Alföldi, J., Wang, Q., Collins, R. L., Laricchia, K. M., Ganna, A., Birnbaum, D. P., et al. (2020) · Nature · doi:10.1038/s41586-020-2308-7 · Cited by 9,434
Self-citationIntegrative analysis of 111 reference human epigenomes
Roadmap Epigenomics Consortium, Kundaje, A., Meuleman, W., Ernst, J., Bilenky, M., Yen, A., Heravi-Moussavi, A., Kheradpour, P., Zhang, Z., Wang, J., et al. (2015) · Nature · doi:10.1038/nature14248 · Cited by 6,368
A general framework for estimating the relative pathogenicity of human genetic variants
Kircher, M., Witten, D. M., Jain, P., O'Roak, B. J., Cooper, G. M., & Shendure, J. (2014) · Nature Genetics · doi:10.1038/ng.2892 · Cited by 6,183
GENCODE: The reference human genome annotation for The ENCODE Project
Harrow, J., Frankish, A., Gonzalez, J. M., Tapanari, E., Diekhans, M., Kokocinski, F., Aken, B. L., Barrell, D., Zadissa, A., Searle, S., et al. (2012) · Genome Research · doi:10.1101/gr.135350.111 · Cited by 4,585
ClinVar: improving access to variant interpretations and supporting evidence
Landrum, M. J., Lee, J. M., Benson, M., Brown, G. R., Chao, C., Chitipiralla, S., Gu, B., Hart, J., Hoffman, D., Jang, W., et al. (2018) · Nucleic Acids Research · doi:10.1093/nar/gkx1153 · Cited by 4,196
Hindorff, L. A., Sethupathy, P., Junkins, H. A., Ramos, E. M., Mehta, J. P., Collins, F. S., & Manolio, T. A. (2009) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0903103106 · Cited by 4,013
Cited by
Sorted by citations
Items 301–400 of 1,003
Second-order group knockoffs with applications to genome-wide association studies
Chu, B. B., Gu, J., Chen, Z., Morrison, T., Candès, E. J., He, Z., & Sabatti, C. (2024) · Bioinformatics · doi:10.1093/bioinformatics/btae580 · Cited by 8
Kim, M. K., Cho, I. R., Kim, Y., Choi, J. H., Jung, K., Kim, J., Kim, S., Yun, H., Yoon, J., Oh, D. Y., et al. (2024) · Therapeutic Advances in Medical Oncology · doi:10.1177/17588359241290482 · Cited by 8
Self-citationAssociation of clonal haematopoiesis with recurrent venous thromboembolism: A case–control study
Englisch, C., Vostatek, R., Schramm, T., Binder, C. J., Pabinger, I., Jäger, R., & Ay, C. (2024) · British Journal of Haematology · doi:10.1111/bjh.19871 · Cited by 8
Anfinson, M., Creighton, S., Simpson, P. M., James, J. M., Lim, P., Frommelt, P. C., Tomita‐Mitchell, A., & Mitchell, M. E. (2024) · Genes · doi:10.3390/genes15111449 · Cited by 8
Paschal, C. R., Zalusky, M. P. G., Beck, A. E., Gillentine, M. A., Narayanan, J., Damaraju, N., Goffena, J., Storz, S. H. R., & Miller, D. E. (2025) · Journal of Molecular Diagnostics · doi:10.1016/j.jmoldx.2024.12.003 · Cited by 8
DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders
Lessel, I., Barešić, A., Chinn, I. K., May, J., Goenka, A., Chandler, K., Posey, J. E., Afenjar, A., Averdunk, L., Bedeschi, M. F., et al. (2025) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2024.12.012 · Cited by 8
Human oncostatin M deficiency underlies an inherited severe bone marrow failure syndrome
Garrigue, A., Kermasson, L., Susini, S., Fert, I., Mahony, C. B., Sadek, H., Luce, S., Chouteau, M., Cavazzana, M., Six, E. M., et al. (2025) · Journal of Clinical Investigation · doi:10.1172/jci180981 · Cited by 7
Human genetic variants in SLC39A8 impact uptake and steady-state metal levels within the cell
Wang, W., Garofoli, A., Ferrada, E., Klimek, C., Steurer, B., Inglés‐Prieto, Á., Osthushenrich, T., MacNamara, A., Mälarstig, A., Wiedmer, T., et al. (2025) · Life Science Alliance · doi:10.26508/lsa.202403028 · Cited by 9
Genetic variants and phenotypic data curated for the CAGI6 intellectual disability panel challenge
Aspromonte, M. C., Conte, A. D., Polli, R., Baldo, D., Benedicenti, F., Bettella, E., Bigoni, S., Boni, S., Ciaccio, C., D’Arrigo, S., et al. (2025) · Human Genetics · doi:10.1007/s00439-025-02733-1 · Cited by 8
Inherited retinal disease-associated uveitis
Hung, J., Jain, T., Khatri, A., Nguyen, T. T., Nguyen, C. D.-T., Yavari, N., Mobasserian, A., Karaca, I., Mohammadi, S. S., Gupta, A., et al. (2025) · Survey of Ophthalmology · doi:10.1016/j.survophthal.2025.03.011 · Cited by 9
Lucca, C., Rosina, E., Pezzani, L., Piazzolla, D., Spaccini, L., Scatigno, A., Gasperini, S., Pezzoli, L., Cereda, A., Milani, D., et al. (2025) · Clinical Genetics · doi:10.1111/cge.14760 · Cited by 8
“Variants were filtered in the context of the patient's phenotype and family history, the frequency of variants in the general population [35], and compatibility with publicly available information about disease incidence.”
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Tlaye, K. G., Woldeamanuel, G. G., Wong, K. C.-Y., Chen, L., Zheng, R., So, P. K., Wang, X., Nguyen‐Hoang, L., Zhong, M., So, H., et al. (2025) · Circulation Research · doi:10.1161/circresaha.124.325699 · Cited by 8
Bensouna, I., Doreille, A., Dancer, M. S., Lèbre, A.-S., Robert, T., & Mesnard, L. (2025) · Nature Reviews Nephrology · doi:10.1038/s41581-025-00970-1 · Cited by 11
“…rare diseases can limit false-positive findings if sample diversity is sufficient, and samples from minority groups of individuals are included, although the risk of assigning pathogenic or likely pathogenic status owing to an underestimated variant frequency in the control database remains 85–87 .”
Orthosteric STING inhibition elucidates molecular correction of SAVI STING
Xie, T., Ruzanov, M., Critton, D., Merselis, L. C., Naglich, J. G., Sack, J. S., Zhang, P., Xie, C., Tredup, J. A., Stine, L. B., et al. (2025) · Nature Communications · doi:10.1038/s41467-025-60632-5 · Cited by 8
The Rh blood group system: RHD update
Ramsey, G. E. (2025) · Immunohematology · doi:10.2478/immunohematology-2025-007 · Cited by 8
Hidden splice variants in inborn errors of immunity: Uncovering diagnoses and therapeutic targets
Ochoa, S., Oler, A. J., Chinn, I. K., & Lionakis, M. S. (2025) · Journal of Allergy and Clinical Immunology · doi:10.1016/j.jaci.2025.07.017 · Cited by 8
varCADD: large sets of standing genetic variation enable genome-wide pathogenicity prediction
Nazaretyan, L., Rentzsch, P., & Kircher, M. (2025) · Genome Medicine · doi:10.1186/s13073-025-01517-6 · Cited by 7
Expanding the utility of variant effect predictions with phenotype-specific models
Stein, D. F., Kars, M. E., Milisavljevic, B., Mort, M. E., Stenson, P. D., Casanova, J., Cooper, D. N., Boisson, B., Zhang, P., Schlessinger, A., et al. (2025) · Nature Communications · doi:10.1038/s41467-025-66607-w · Cited by 13
“For each gene or region containing HGMD variants, gnomAD variants were selected such that the total number of gnomAD variants from that gene or region was equal to that of the HGMD variants and also such that the SO consequences of the gnomAD variants matched those of the HGMD variants (Supplementary Data 5).”
InfluentialFu, Z., Song, Y., Liu, F., Chen, L., Cai, S., Cui, P., Wang, G., Xie, W., Zhang, S., Ding, L., et al. (2026) · Cancer Cell · doi:10.1016/j.ccell.2025.12.014 · Cited by 9
Seidizadeh, O., Cairo, A., Oriani, C., & Peyvandi, F. (2026) · Scientific Reports · doi:10.1038/s41598-026-36145-6 · Cited by 8
“The advent of NGS has revolutionized genetic epidemiology, as data from large international consortia are increasingly accessible 9,11 .”
Hawkes, G., Wright, H. I. W., Beaumont, R. N., Chundru, V. K., Hanson, A., Jackson, L. M., Murray, A., Patel, K., Frayling, T. M., Wright, C. F., et al. (2026) · Nature Communications · doi:10.1038/s41467-026-69208-3 · Cited by 8
Enamel proteins from six Homo erectus specimens across China
Fu, Q., Wu, Z., Bennett, E. A., Song, X., Ji, Q., Dong, Z., Rao, H., Gu, X., Dang, Y., Xing, J., et al. (2026) · Nature · doi:10.1038/s41586-026-10478-8 · Cited by 8
Goble, S. R., Akambase, J. A., Prieto, J. E., Balderramo, D. C., Ferrer, J. D., de Mattos, Â. Z., Arrese, M. A., Carrera, E., Groothuismink, Z. M. A., Oliveira, J., et al. (2023) · Digestive Diseases and Sciences · doi:10.1007/s10620-023-08104-y · Cited by 8
Nicolau, S., Malhotra, J. D., Kaler, M. M., Magistrado-Coxen, P., Iammarino, M. A., Reash, N. F., Frair, E. C., Wijeratne, S., Kelly, B., White, P., et al. (2024) · Journal of Neuromuscular Diseases · doi:10.3233/jnd-230107 · Cited by 8
Martínez-Duncker, I., Mata-Salgado, D., Shammas, I., Ranatunga, W. K., Daniel, E. J. P., Muñoz, M. E. C., Abreu, M., Mora-Montes, H. M., He, M., Morava, É., et al. (2024) · Frontiers in Genetics · doi:10.3389/fgene.2024.1363558 · Cited by 8
Self-citationGLA insufficiency should not be called Fabry disease
Houge, G., Langeveld, M., & Oliveira, J. P. (2024) · European Journal of Human Genetics · doi:10.1038/s41431-024-01657-0 · Cited by 8
Davidson, A. L., Michailidou, K., Parsons, M. T., Fortuño, C., Bolla, M. K., Wang, Q., Dennis, J., Naven, M., Abubakar, M., Ahearn, T. U., et al. (2024) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2024.07.004 · Cited by 7
Self-citationElkhateeb, N. M., Crookes, R., Spiller, M. P., Pavinato, L., Palermo, F., Brusco, A., Parker, M. J., Park, S., Mendes, A. C., Saraiva, J., et al. (2024) · Genetics in Medicine · doi:10.1016/j.gim.2024.101348 · Cited by 8
Ahmed, H. A., Fahmy, E. M., Abdelkreem, E., Mahmoud, E. A.-R., Nafady, A., & Ahmed, E. H. (2023) · Pediatric Blood & Cancer · doi:10.1002/pbc.30646 · Cited by 8
Anderson, A. G., Moyers, B. A., Loupe, J. M., Rodríguez-Nunez, I., Felker, S. A., Lawlor, J. M. J., Bunney, W. E., Bunney, B. G., Cartagena, P. M., Sequeira, A., et al. (2024) · Genome Research · doi:10.1101/gr.278601.123 · Cited by 7
Transcriptomic convergence and the female protective effect in autism
Andersen, R., Talukdar, M., Sakamoto, T., Exposito-Alonso, D., Song, J. H. T., Qian, X., Lee, S., Murugan, N., Delgado, R. N., Zhao, S., et al. (2026) · Nature · doi:10.1101/2025.01.20.634000 · Cited by 9
Microcystic lymphatic malformations in Turner syndrome are due to somatic mosaicism of PIK3CA
Nriagu, B. N., Williams, L. S., Brewer, N. S., Surrey, L. F., Srinivasan, A. S., Li, D., Britt, A., Treat, J. R., Crowley, T. B., O’Connor, N., et al. (2023) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.63385 · Cited by 7
Foyzun, T., Whiting, M., Velasco, K. K., Jacobsen, J. C., Connor, M. A., & Grimsey, N. L. (2024) · British Journal of Pharmacology · doi:10.1111/bph.16383 · Cited by 8
Somatic mutations in tumor-infiltrating lymphocytes impact on antitumor immunity
Mukohara, F., Iwata, K., Ishino, T., Inozume, T., Nagasaki, J., Ueda, Y., Suzawa, K., Ueno, T., Ikeda, H., Kawase, K., et al. (2024) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2320189121 · Cited by 9
Stephanou, C., Menzel, S., Philipsen, S., & Kountouris, P. (2024) · International Journal of Molecular Sciences · doi:10.3390/ijms252111408 · Cited by 8
Ambrose, A., McNiven, V., Wilson, D., Tempes, A., Underwood, M., Chau, V., Schulze, A., Wyszyńska, A., Desch, K. C., Malik, A. R., et al. (2025) · Neurology Genetics · doi:10.1212/nxg.0000000000200232 · Cited by 7
Wang, L., Kranzler, H. R., Gelernter, J. E., & Zhou, H. (2025) · Biological Psychiatry · doi:10.1016/j.biopsych.2025.01.020 · Cited by 8
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Tsabai, P. N., Pavlova, N. S., Валерьевич, Ш. Т., Kumykova, Z. K., Stupko, O. K., Kochetkova, T. O., Lobanova, N. N., Goltsov, A. Y., Leukhina, O. O., Shubina, J., et al. (2025) · Journal of Assisted Reproduction and Genetics · doi:10.1007/s10815-025-03417-5 · Cited by 7
Ow, J. R., Imagawa, E., Chen, F., Cher, W. Y., Chan, S. Y. T., Gurrampati, R. R., Ramadass, V., Loke, M. F., Tabaglio, T., Nishida, H., et al. (2025) · Journal of Hepatology · doi:10.1016/j.jhep.2025.02.007 · Cited by 7
Corral-Serrano, J. C., Vaclavik, V., de Sompele, S. V., Kamińska, K., Jovanovic, K., Escher, P., den Broeck, F. V., Cancellieri, F., Toulis, V., Leroy, B. P., et al. (2025) · Human Molecular Genetics · doi:10.1093/hmg/ddaf029 · Cited by 7
Þorvaldsdóttir, B., Mansouri, L., Sutton, L., Nadeu, F., Meggendorfer, M., Parker, H., Brieghel, C., Laidou, S., Moia, R., Rossi, D., et al. (2025) · Leukemia · doi:10.1038/s41375-025-02615-5 · Cited by 7
“0) [24], annotation in ClinVar [25], OnkoKB [26, 27], variant type (nonsense/frameshift or missense), pathogenicity predictions by AlphaMissense [28] and CADD (v1.”
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Sui, Y., Lin, J., Noyes, M. D., Kwon, Y., Wong, I., Koundinya, N., Harvey, W. T., Wu, M., Hoekzema, K., Munson, K. M., et al. (2026) · Nature Communications · doi:10.1038/s41467-026-68378-4 · Cited by 8
“If we further restrict this analysis to SVs corresponding to regions of the genome under functional constraint (with Gnocchi ≥ 4 32 and overlap with predicted promoters), this set would further reduce to one or two SVs per genome.”
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Zou, X. Z., Hu, F., Lou, H., Burren, O. S., Li, X., Mégy, K., Wheeler, E., Wu, Q., Atanur, S. S., Karpiński, M., et al. (2026) · Nature · doi:10.1038/s41586-025-10087-x · Cited by 16
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Silva, M. A. C. E., Nunes, K., Ribeiro, M., Passarelli‐Araujo, H., Lemes, R. B., Kimura, L., Sacuena, E. R. P., Amorim, C. E. G., Bortolini, M. C., Mill, J. G., et al. (2026) · Nature · doi:10.1038/s41586-026-10406-w · Cited by 11
Mann, J. P., Lefere, S., Buytaert, M., Alisi, A., Arikan, C., Brecelj, J., Brown, R. M., Degrassi, I., Fiore, G., Fitzpatrick, E., et al. (2026) · Journal of Pediatric Gastroenterology and Nutrition · doi:10.1002/jpn3.70490 · Cited by 9
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ElHarouni, D., Al‐Jazrawe, M., Choi, S., Dede, M., Hinoue, T., Misek, S. A., Noh, H., Zanella, L., Tseng, Y.-Y., Francies, H. E., et al. (2026) · Nature · doi:10.1038/s41586-026-10806-y · Cited by 9
“Specifically, we retained only biallelic SNPs that met the following criteria: (1) population MAF ≥ 0.1%; (2) identified in the gnomADv4 WES cohort 154 ; and (3) flagged as PASS in gno-mAD.”
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Li, C., Luo, Y., Xie, Y., Zhang, Z., Liu, Y., Zou, L., & Xiao, F. (2023) · Computational and Structural Biotechnology Journal · doi:10.1016/j.csbj.2023.12.031 · Cited by 8
Using multi-scale genomics to associate poorly annotated genes with rare diseases
Canavati, C., Sherill-Rofe, D., Kamal, L., Bloch, I., Zahdeh, F., Sharon, E., Terespolsky, B., Allan, I. A., Rabie, G., Kawas, M., et al. (2024) · Genome Medicine · doi:10.1186/s13073-023-01276-2 · Cited by 7
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Balachandran, S., Prada‐Medina, C. A., Mensah, M. A., Glaser, J., Kakar, N., Nagel, I., Pozojevic, J., Audain, E., Hitz, M., Kircher, M., et al. (2024) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2023.12.011 · Cited by 10
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Busquets, O., Li, H., Syed, K. M., Jerez, P. Á., Dunnack, J., Bu, R. L., Verma, Y., Pangilinan, G. R., Martin, A., Straub, J., et al. (2026) · Nature Communications · doi:10.1038/s41467-026-74355-8 · Cited by 9
Self-citationOsborne, A. J., Bierżyńska, A., Colby, E., Andag, U., Kalra, P. A., Radresa, O., Skroblin, P., Taal, M. W., Welsh, G. I., Saleem, M. A., et al. (2024) · npj Systems Biology and Applications · doi:10.1038/s41540-024-00350-8 · Cited by 11
Redfield, S. E., De‐la‐Torre, P., Zamani, M., Wang, H., Khan, H., Morris, T., Shariati, G., Karimi, M., Kenna, M. A., Seo, G. H., et al. (2024) · Human Genetics · doi:10.1007/s00439-024-02649-2 · Cited by 7
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Schwotzer, N., Fakhouri, F., Vieira-Martins, P., Delmas, Y., Caillard, S., Zuber, J., Moranne, O. P., Mesnard, L., Frémeaux‐Bacchi, V., & Sissy, C. E. (2024) · American Journal of Kidney Diseases · doi:10.1053/j.ajkd.2023.12.021 · Cited by 7
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Rawlins, L. E., Maroofian, R., Cannon, S. J., Daana, M., Zamani, M., Ghani, S., Leslie, J. S., Ubeyratna, N., Khan, N., Khan, H., et al. (2024) · Genetics in Medicine · doi:10.1016/j.gim.2024.101278 · Cited by 7
Njoku, R. C., Martinelli, M., Giubbi, C., Marco, S. D., Torsello, B., d’Avenia, M., Sironi, M., Bianchi, C., & Cocuzza, C. E. (2024) · Diagnostics · doi:10.3390/diagnostics14192194 · Cited by 7
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Ranji, P., Pairet, E., Helaers, R., Bayet, B., Gerdom, A., Gil‐da‐Silva‐Lopes, V. L., Revençu, N., & Vikkula, M. (2024) · European Journal of Human Genetics · doi:10.1038/s41431-024-01727-3 · Cited by 7
When “loss-of-function” means proteostasis burden: Thinking again about coding DNA variants
Shovlin, C. L., & Aldred, M. A. (2025) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2024.12.002 · Cited by 6
Hatchell, K. E., Poll, S. R., Russell, E. M., Williams, T. J., Ellsworth, R. E., Facio, F. M., Aguilar, S. J., Esplin, E. D., Popejoy, A. B., Nussbaum, R. L., et al. (2025) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2025.01.008 · Cited by 8
Clinical and genetic aspects of Bardet–Biedl syndrome in adults in Norway
Rustad, C. F., Bragadóttir, R., Tveten, K., Nordgarden, H., Miller, J. U., Åsten, P. M., Vasconcelos, G., Kulseth, M. A., Holla, Ø. L., Olsen, H. G., et al. (2025) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-025-03641-3 · Cited by 7
“This variant is not listed in gnomAD [48] and has not previously been reported in BBS.”
Javadzadeh, S., Adamson, A. W., Park, J., Jo, S., Ding, Y.-C., Bakhtiari, M., Bansal, V., Neuhausen, S. L., & Bafna, V. (2025) · PLoS Computational Biology · doi:10.1371/journal.pcbi.1012885 · Cited by 7
Biochemical signatures of disease severity in multiple sulfatase deficiency
Adang, L. A., Mowafy, S., Herbst, Z. M., Zhou, Z., Schlotawa, L., Radhakrishnan, K., Bentley, B., Pham, V., Yu, E. P. Y., Pillai, N. R., et al. (2023) · Journal of Inherited Metabolic Disease · doi:10.1002/jimd.12688 · Cited by 7
Shil, A., Levin, L., Golan, H. M., Meiri, G., Michaelovski, A., Sadaka, Y., Aran, A. A., Dinstein, I., & Menashe, I. (2023) · Scientific Reports · doi:10.1038/s41598-023-46258-x · Cited by 6
Shelton, G. D., Tucciarone, F., Guo, L. T., Coghill, L. M., & Lyons, L. A. (2024) · Journal of Veterinary Internal Medicine · doi:10.1111/jvim.16971 · Cited by 7
Brooks, D., Burke, E. A., Lee, S., Eble, T. N., O’Leary, M., Osei‐Owusu, I., Rehm, H. L., Dhar, S. U., Emrick, L., Bick, D. P., et al. (2024) · Human Genetics · doi:10.1007/s00439-024-02657-2 · Cited by 7
Self-citationLynn, N., & Tuller, T. (2024) · npj Systems Biology and Applications · doi:10.1038/s41540-024-00351-7 · Cited by 5
Investigating the performance of foundation models on human 3′UTR sequences
Вилов, С. А., & Heinig, M. (2025) · Nucleic Acids Research · doi:10.1093/nar/gkaf871 · Cited by 6
“Hence, we also considered rare SNVs with allelic count of 1 from gno-mAD v. 3.1.2 [ 16 ] as an alternative set of proxy-functional variants.”
InfluentialGenetic architecture of telomere length in 462,675 UK Biobank whole-genome sequencesPreprint
Burren, O. S., Dhindsa, R. S., Deevi, S. V. V., Wen, S., Nag, A., Mitchell, J., Hu, F., Smith, K. R., Razdan, N., Olsson, H., et al. (2023) · medRxiv · doi:10.1101/2023.09.18.23295715 · Cited by 7
Self-citationWang, H., Chang, T. S., Dombroski, B. A., Cheng, P., Patil, V., Valiente‐Banuet, L., Farrell, K. W., McLean, C., Molina‐Porcel, L., Rajput, A. H., et al. (2023) · medRxiv · doi:10.1101/2023.12.28.23300612 · Cited by 7
Self-citationTallman, S., Moutsianas, L., Nguyen, T., Cho, Y., Mackintosh, M. E., Kasperavičiūtė, D., Brown, M. A., Ellingford, J. M., Kuchenbaecker, K. B., & Silver, M. J. (2024) · medRxiv · doi:10.1101/2024.08.12.24311664 · Cited by 7
Karagöl, T., & Karagöl, A. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2025.03.03.641025 · Cited by 7
Analysis-ready VCF at Biobank scale using Zarr
(2025) · doi:10.1093/gigascience/giaf049 · Cited by 8
Self-citationGolubenko, M. V., Pavlyukova, E. N., Ринатович, С. Р., Makeeva, O. A., Kv, P., Glotov, O. S., Puzyrev, V. P., & Nazarenko, M. S. (2024) · Frontiers in Bioscience-Scholar · doi:10.31083/j.fbs1601001 · Cited by 6
Identification of germline population variants misclassified as cancer-associated somatic variants
Pollard, R. D., Wilkerson, M. D., & Rajagopal, P. S. (2024) · Frontiers in Medicine · doi:10.3389/fmed.2024.1361317 · Cited by 6
Increased endothelial sclerostin caused by elevated DSCAM mediates multiple trisomy 21 phenotypes
McKean, D. M., Zhang, Q., Narayan, P., Morton, S. U., Strohmenger, V., Tang, V. T., McAllister, S., Sharma, A., Quiat, D., Reichart, D., et al. (2024) · Journal of Clinical Investigation · doi:10.1172/jci167811 · Cited by 7
Yang, K., Zhang, T., Niu, R., Zhao, L., Cheng, Z., Li, J., & Wang, L. (2024) · Frontiers in Genetics · doi:10.3389/fgene.2024.1483574 · Cited by 10
Self-citationBakker, O. B., Claringbould, A., Westra, H.-J., Wiersma, H. H., Boulogne, F., Võsa, U., Urzúa-Traslaviña, C. G., Symmons, S. M., Zidan, M., Sadler, M. C., et al. (2024) · Scientific Reports · doi:10.1038/s41598-024-80670-1 · Cited by 17
Maillard, M., Nguyen, J. Q., Yang, W., Hoshitsuki, K., Relling, M. V., Caudle, K. E., Crews, K. R., Jeha, S., Inaba, H., Pui, C., et al. (2024) · Clinical Pharmacology & Therapeutics · doi:10.1002/cpt.3501 · Cited by 6
Verbinnen, I., Douzgou, S., Hsieh, T., Lesmann, H., Kirchhoff, A., Geneviève, D., Brimble, E., Lenaerts, L., Haesen, D., Levy, R. J., et al. (2025) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2025.01.021 · Cited by 6
Tursky, M. L., Artuz, C. M., Rapadas, M., Wittert, G., Molloy, T. J., & Ma, D. D. F. (2025) · PLoS ONE · doi:10.1371/journal.pone.0318300 · Cited by 8
Functional interrogation of cellular Lp(a) uptake by genome-scale CRISPR screening
Khan, T. G., Bragazzi Cunha, J., Raut, C., Burroughs, M., Vyas, H. S., Leix, K., Goonewardena, S. N., Smrcka, A. V., Speliotes, E. K., & Emmer, B. T. (2025) · Atherosclerosis · doi:10.1016/j.atherosclerosis.2025.119174 · Cited by 6
Guzman, S., Ruggiero, S. M., Ganesan, S., Ellis, C. A., Harrison, A., Sullivan, K. R., Stark, Z., Brown, N. J., Kana, S. L., Tuttle, A., et al. (2025) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2025.04.011 · Cited by 9
Antolí, A., Vargas‐Parra, G., Sierra-Fortuny, À., Gomez-Vazquez, J. L., Rofes, P., Munté, E., Viana-Errasti, J., Marín-Montes, R., López‐Doriga, A., Feliubadaló, L., et al. (2025) · Journal of Clinical Immunology · doi:10.1007/s10875-025-01892-0 · Cited by 6
“TLR7, similar to other endosomal TLRs, is highly conserved and mutation-intolerant, as reflected by its evolutionary constrain [55] and high pLI (probability of being LOF intolerant) score [3].”
Increased burden of rare variants in GWAS associated genes in familial multiple sclerosis
Turk, A., Maver, A., Juvan, P., Drulovic, J. S., Mesaroš, Š., Novaković, I. V., Čizmarević, N. S., Ristič, S., Matić, I. S., & Peterlin, B. (2025) · Scientific Reports · doi:10.1038/s41598-025-04741-7 · Cited by 7
Patterns and drivers of 43,617 mosaic chromosomal alterations in blood
Tang, D. S.-H., Kamitaki, N., Mukamel, R. E., Rubinacci, S., & Loh, P. (2026) · Nature Genetics · doi:10.1038/s41588-026-02592-0 · Cited by 7
“1.0 exomes release 88 , which included 416,555 exome-sequenced UKB participants.”
InfluentialZhao, C., Hu, X., Guan, X., Fu, X., Wang, T., Li, M., Liu, X., Zhao, J., Wu, D., Zhang, F., et al. (2025) · Nature Communications · doi:10.1038/s41467-025-63039-4 · Cited by 6
Self-citationJang, S. H., Roh, J. W., Oh, K. S., Joo, S. Y., Kim, J. A., Kim, S. J., Choi, J. Y., Jung, J., Kim, Y., Bok, J., et al. (2025) · Molecular Therapy · doi:10.1016/j.ymthe.2025.08.044 · Cited by 7
Self-citationSMARCAL1 is a new osteosarcoma predisposition gene
Rafati, M., Guenther, L. M., Egolf, L. E., Gianferante, D. M., Kim, J., Wang, K., Zhu, B., Spector, L. G., Anderson, N., Janeway, K. A., et al. (2025) · JNCI Journal of the National Cancer Institute · doi:10.1093/jnci/djaf278 · Cited by 8
Novel genotypes, phenotypes, and triggers in humans with OTULIN haploinsufficiency
van der Linden, T. J., Arts, R. J. W., Biggs, C. M., Habibi, L., Batlle-Masó, L., van Laarhoven, A., Scheepmaker, L. M., Yousefi, P., Raccio, A. C. G., Alizadeh, Z., et al. (2025) · Journal of Human Immunity · doi:10.70962/jhi.20250018 · Cited by 6
Jang, S. H., Song, H. G., Joo, S. Y., Kim, J. A., Kim, S. J., Choi, J. Y., Jung, J., & Gee, H. Y. (2025) · Molecular Therapy · doi:10.1016/j.ymthe.2025.10.005 · Cited by 6
ntRoot: computational inference of human ancestry at scale from genomic data
Warren, R. L., Coombe, L., Wong, J., Kazemi, P., & Birol, İ. (2024) · Bioinformatics Advances · doi:10.1093/bioadv/vbaf287 · Cited by 6
Transcription start sites experience a high influx of heritable variants fueled by early development
Guzmán, M. C., Castellano, D., Colomé, C. S., Seplyarskiy, V. B., & Weghorn, D. (2025) · Nature Communications · doi:10.1038/s41467-025-66201-0 · Cited by 6
“Our fi ndings provide a framework to correct the mutational models underlying such studies, empowering more accurate inferences of negative selection in promoters, 5 ’ -UTRs, and exonic regions 75,76 .”
Bronnec, P., Dalmon, S., Briand, C., Allatif, O., Broly, M., Marcotte, M., Lombardi, G., Barthes, K., Martel, N., Hughes, S., et al. (2025) · The Journal of Experimental Medicine · doi:10.1084/jem.20251065 · Cited by 6
Liang, D., Zhu, M., Liang, Q., Qiang, R., Yu, L., Xu, S., Li, M., Song, J., Zhou, Y., He, X., et al. (2025) · Genome Medicine · doi:10.1186/s13073-025-01594-7 · Cited by 8
“Exonic and intronic variants of CYP21A2 not listed in the EMQN guidelines were filtered with an allele frequency ≥ 1%, as shown in the gno-mAD [32] or in this study cohort.”
Mao, Y., Gide, T. N., Maher, N. G., Vignati, D., Boutros, A., Cornejo‐Páramo, P., Potter, A. J., Carlino, M. S., Paver, E. C., Burke, H., et al. (2026) · npj Precision Oncology · doi:10.1038/s41698-025-01230-y · Cited by 6
A disease model resource reveals core principles of tissue-specific cancer evolution
Mueller, S., Krätzig, N. D. A., Tschurtschenthaler, M., Silva, M. G., Thordsen, C., Trozzo, R., Simon, P., Saab, F., Kaltenbacher, T., Żukowska, M., et al. (2026) · Nature · doi:10.1038/s41586-026-10187-2 · Cited by 9
Cofilin-1 is a redox-sensitive guard of the NLRP3 inflammasome
Park, Y. H., Batu, E. D., Matthíasardóttir, B., Kim, Y., Akkaya‐Ulum, Y. Z., Kastner, D. L., & Chae, J. J. (2026) · Nature Immunology · doi:10.1038/s41590-026-02477-8 · Cited by 7
Self-citationDeleterious coding variation associated with autism is shared across ancestries
Avila, M. N., Jung, S., Satterstrom, F. K., Fu, J. M., Levy, T., Sloofman, L. G., Klei, L., Pichardo, T., Márquez., D. Y. P., Stevens, C. R., et al. (2026) · Nature Medicine · doi:10.1038/s41591-026-04228-6 · Cited by 12
“22,23)) and unique de novo coding sequence variants (5,062 in ASD probands and 1,493 in siblings) (Supplementary Table 3).”
Self-citation
Metadata
- Authors
- Chen, S., Francioli, L. C., Goodrich, J. K., Collins, R. L., Kanai, M., Wang, Q., Alföldi, J., Watts, N. A., Vittal, C., Gauthier, L. D., Poterba, T., Wilson, M. W., Tarasova, Y., Phu, W., Grant, R., Yohannes, M. T., Koenig, Z., Farjoun, Y., Banks, E., Donnelly, S., Gabriel, S., Gupta, N., Ferriera, S., Tolonen, C., Novod, S., Bergelson, L., Roazen, D., Ruano-Rubio, V., Covarrubias, M., Llanwarne, C., Petrillo, N., Wade, G., Jeandet, T., Munshi, R., Tibbetts, K., Genome Aggregation Database Consortium, Abreu, M., Aguilar Salinas, C. A., Ahmad, T., Albert, C. M., Ardissino, D., Armean, I. M., Atkinson, E. G., Atzmon, G., Barnard, J., Baxter, S. M., Beaugerie, L., Benjamin, E. J., Benjamin, D., Boehnke, M., Bonnycastle, L. L., Bottinger, E. P., Bowden, D. W., Bown, M. J., Brand, H., Brant, S., Brookings, T., Bryant, S., Calvo, S. E., Campos, H., Chambers, J. C., Chan, J. C., Chao, K. R., Chapman, S., Chasman, D. I., Chisholm, R., Cho, J., Chowdhury, R., Chung, M. K., Chung, W. K., Cibulskis, K., Cohen, B., Connolly, K. M., Correa, A., Cummings, B. B., Dabelea, D., Danesh, J., Darbar, D., Darnowsky, P., Denny, J., Duggirala, R., Dupuis, J., Ellinor, P. T., Elosua, R., Emery, J., England, E., Erdmann, J., Esko, T., Evangelista, E., Fatkin, D., Florez, J., Franke, A., Fu, J., Färkkilä, M., Garimella, K., Gentry, J., Getz, G., Glahn, D. C., Glaser, B., Glatt, S. J., Goldstein, D., Gonzalez, C., Groop, L., Gudmundsson, S., Haessly, A., Haiman, C., Hall, I., Hanis, C. L., Harms, M., Hiltunen, M., Holi, M. M., Hultman, C. M., Jalas, C., Kallela, M., Kaplan, D., Kaprio, J., Kathiresan, S., Kenny, E. E., Kim, B.-J., Kim, Y. J., King, D., Kirov, G., Kooner, J., Koskinen, S., Krumholz, H. M., Kugathasan, S., Kwak, S. H., Laakso, M., Lake, N., Langsford, T., Laricchia, K. M., Lehtimäki, T., Lek, M., Lipscomb, E., Loos, R. J. F., Lu, W., Lubitz, S. A., Luna, T. T., Ma, R. C. W., Marcus, G. M., Marrugat, J., Mattila, K. M., McCarroll, S., McCarthy, M. I., McCauley, J. L., McGovern, D., McPherson, R., Meigs, J. B., Melander, O., Metspalu, A., Meyers, D., Minikel, E. V., Mitchell, B. D., Mootha, V. K., Naheed, A., Nazarian, S., Nilsson, P. M., O’Donovan, M. C., Okada, Y., Ongur, D., Orozco, L., Owen, M. J., Palmer, C., Palmer, N. D., Palotie, A., Park, K. S., Pato, C., Pulver, A. E., Rader, D., Rahman, N., Reiner, A., Remes, A. M., Rhodes, D., Rich, S., Rioux, J. D., Ripatti, S., Roden, D. M., Rotter, J. I., Sahakian, N., Saleheen, D., Salomaa, V., Saltzman, A., Samani, N. J., Samocha, K. E., Sanchis-Juan, A., Scharf, J., Schleicher, M., Schunkert, H., Schönherr, S., Seaby, E. G., Shah, S. H., Shand, M., Sharpe, T., Shoemaker, M. B., Shyong, T., Silverman, E. K., Singer-Berk, M., Sklar, P., Smith, J. T., Smith, J. G., Soininen, H., Sokol, H., Son, R. G., Soto, J., Spector, T., Stevens, C., Stitziel, N. O., Sullivan, P. F., Suvisaari, J., Tai, E. S., Taylor, K. D., Teo, Y. Y., Tsuang, M., Tuomi, T., Turner, D., Tusie-Luna, T., Vartiainen, E., Vawter, M., Wang, L., Wang, A., Ware, J. S., Watkins, H., Weersma, R. K., Weisburd, B., Wessman, M., Whiffin, N., Wilson, J. G., Xavier, R. J., O’Donnell-Luria, A., Solomonson, M., Seed, C., Martin, A. R., Talkowski, M. E., Rehm, H. L., Daly, M. J., Tiao, G., Neale, B. M., MacArthur, D. G., & Karczewski, K. J.
- Affiliations
- Broad Institute (US)
- Lady Davis Institute for Medical Research (CA)
- University of Miami (US)
- Peninsula College of Medicine and Dentistry (GB)
- Brigham and Women's Hospital (US)
- University of Parma (IT)
- Albert Einstein College of Medicine (US)
- Cleveland Clinic (US)
- Sorbonne Université (FR)
- Boston University (US)
- University of Michigan (US)
- National Institutes of Health (US)
- Wake Forest University Health Sciences (US)
- University of Leicester (GB)
- Harvard University (US)
- Rutgers, The State University of New Jersey (US)
- Imperial College Healthcare NHS Trust (GB)
- Chinese University of Hong Kong (HK)
- Northwestern University (US)
- Icahn School of Medicine at Mount Sinai (US)
- University of Cambridge (GB)
- Columbia University Irving Medical Center (US)
- University of Mississippi Medical Center (US)
- Colorado School of Public Health (US)
- University of Illinois Chicago (US)
- Vanderbilt University Medical Center (US)
- Texas A&M University – San Antonio (US)
- University of Lübeck (DE)
- Victor Chang Cardiac Research Institute (AU)
- University of Helsinki (FI)
- Boston Children's Hospital (US)
- SUNY Upstate Medical University (US)
- University of Southern California (US)
- Washington University in St. Louis (US)
- The University of Texas Health Science Center at Houston (US)
- Columbia University (US)
- University of Eastern Finland (FI)
- Helsinki University Hospital (FI)
- Karolinska Institutet (SE)
- Korea National Institute of Health (KR)
- Cardiff University (GB)
- Finnish Institute for Health and Welfare (FI)
- Yale New Haven Hospital (US)
- Emory University (US)
- Seoul National University (KR)
- Yale University (US)
- Tampere University (FI)
- University of Copenhagen (DK)
- Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán (MX)
- University of California, San Francisco (US)
- Centro de Investigación en Red en Enfermedades Cardiovasculares (ES)
- Centre for Human Genetics (GB)
- Cedars-Sinai Medical Center (US)
- Ottawa Heart Institute (CA)
- Lund University (SE)
- University of Tartu (EE)
- University of Arizona (US)
- University of Maryland, Baltimore (US)
- International Centre for Diarrhoeal Disease Research (BD)
- Johns Hopkins University (US)
- Institute for Open and Transdisciplinary Research Initiatives (JP)
- National Institute of Genomic Medicine (MX)
- University of Dundee (GB)
- Children's Hospital of Philadelphia (US)
- Institute of Cancer Research (GB)
- University of Washington (US)
- Oulu University Hospital (FI)
- University of Virginia (US)
- Montreal Heart Institute (CA)
- The Lundquist Institute (US)
- Center for Non-Communicable Diseases (PK)
- Deutsches Herzzentrum München (DE)
- Innsbruck Medical University (AT)
- Duke University (US)
- Vanderbilt University (US)
- National University of Singapore (SG)
- Inserm (FR)
- King's College London (GB)
- University of North Carolina at Chapel Hill (US)
- University of California San Diego (US)
- Hebrew University of Jerusalem (IL)
- University of California, Irvine (US)
- University of Oxford (GB)
- University Medical Center Groningen (NL)
- Beth Israel Deaconess Medical Center (US)
- Corresponding author
- Chen, Siwei
- Karczewski, Konrad J.
- ORCID
- Chen, Siwei
- Francioli, Laurent C.
- Goodrich, Julia K.
- Collins, Ryan L.
- Kanai, Masahiro
- Wang, Qingbo
- Alföldi, Jessica
- Poterba, Timothy
- Wilson, Michael W.
- Phu, William
- Farjoun, Yossi
- Banks, Eric
- Donnelly, Stacey
- Gabriel, Stacey
- Gupta, Namrata
- Abreu, Maria
- Ahmad, Tariq
- Albert, Christine M.
- Ardissino, Diego
- Armean, Irina M.
- Atkinson, Elizabeth G.
- Atzmon, Gil
- Barnard, John
- Baxter, Samantha M.
- Beaugerie, Laurent
- Benjamin, Emelia J.
- Boehnke, Michael
- Bonnycastle, Lori L.
- Bowden, Donald W.
- Bown, Matthew J.
- Brand, Harrison
- Brant, Steven
- Calvo, Sarah E.
- Campos, Hannia
- Chambers, John C.
- Chan, Juliana C.
- Chao, Katherine R.
- Chapman, Sinéad
- Chasman, Daniel I.
- Chisholm, Rex
- Cho, Judy
- Chowdhury, Rajiv
- Chung, Mina K.
- Chung, Wendy K.
- Cibulskis, Kristian
- Cohen, Bruce
- Correa, Adolfo
- Cummings, Beryl B.
- Dabelea, Dana
- Danesh, John
- Darbar, Dawood
- Denny, Joshua
- Duggirala, Ravindranath
- Dupuis, Josée
- Ellinor, Patrick T.
- Erdmann, Jeanette
- Esko, Tõnu
- Evangelista, Emily
- Fatkin, Diane
- Fu, Jack
- Färkkilä, Martti
- Garimella, Kiran
- Getz, Gad
- Glahn, David C.
- Glatt, Stephen J.
- Goldstein, David
- Groop, Leif
- Gudmundsson, Sanna
- Haessly, Andrea
- Haiman, Christopher
- Hall, Ira
- Hanis, Craig L.
- Harms, Matthew
- Hiltunen, Mikko
- Holi, Matti M.
- Hultman, Christina M.
- Jalas, Chaim
- Kallela, Mikko
- Kaprio, Jaakko
- Kathiresan, Sekar
- Kenny, Eimear E.
- Kim, Bong-Jo
- Kim, Young Jin
- Kirov, George
- Kooner, Jaspal
- Koskinen, Seppo
- Krumholz, Harlan M.
- Kugathasan, Subra
- Kwak, Soo Heon
- Laakso, Markku
- Lake, Nicole
- Laricchia, Kristen M.
- Lehtimäki, Terho
- Lek, Monkol
- Loos, Ruth J. F.
- Lu, Wenhan
- Lubitz, Steven A.
- Marcus, Gregory M.
- Marrugat, Jaume
- McCarroll, Steven
- McCarthy, Mark I.
- McCauley, Jacob L.
- McGovern, Dermot
- McPherson, Ruth
- Meigs, James B.
- Melander, Olle
- Metspalu, Andres
- Meyers, Deborah
- Minikel, Eric V.
- Mitchell, Braxton D.
- Mootha, Vamsi K.
- Naheed, Aliya
- Nazarian, Saman
- Nilsson, Peter M.
- O’Donovan, Michael C.
- Okada, Yukinori
- Orozco, Lorena
- Owen, Michael J.
- Palotie, Aarno
- Park, Kyong Soo
- Pato, Carlos
- Pulver, Ann E.
- Rahman, Nazneen
- Reiner, Alex
- Rich, Stephen
- Rioux, John D.
- Ripatti, Samuli
- Roden, Dan M.
- Rotter, Jerome I.
- Saleheen, Danish
- Salomaa, Veikko
- Saltzman, Andrea
- Samani, Nilesh J.
- Samocha, Kaitlin E.
- Scharf, Jeremiah
- Schunkert, Heribert
- Schönherr, Sebastian
- Seaby, Eleanor G.
- Shah, Svati H.
- Shand, Megan
- Shoemaker, Moore B.
- Silverman, Edwin K.
- Sklar, Pamela
- Smith, Jonathan T.
- Soininen, Hilkka
- Sokol, Harry
- Son, Rachel G.
- Spector, Tim
- Stevens, Christine
- Stitziel, Nathan O.
- Sullivan, Patrick F.
- Suvisaari, Jaana
- Tai, E. Shyong
- Taylor, Kent D.
- Tsuang, Ming
- Turner, Dan
- Vartiainen, Erkki
- Vawter, Marquis
- Wang, Lily
- Ware, James S.
- Watkins, Hugh
- Weersma, Rinse K.
- Weisburd, Ben
- Whiffin, Nicola
- Wilson, James G.
- Xavier, Ramnik J.
- O’Donnell-Luria, Anne
- Solomonson, Matthew
- Martin, Alicia R.
- Talkowski, Michael E.
- Rehm, Heidi L.
- Daly, Mark J.
- Tiao, Grace
- Neale, Benjamin M.
- MacArthur, Daniel G.
- Karczewski, Konrad J.
- Venue
- Nature
- Published
- 2023-12-06
- Volume
- 625
- Issue
- 7993
- Pages
- 92-100
- ISSN
- 0028-0836 (ISSN-L)
- 1476-4687
- PMC
- PMC11629659
- OpenAlex
- W4389367121
- Cited by
- 1,727
- References
- 90
- Citations by year
- 2026: 520 · 2025: 642 · 2024: 442 · 2023: 121
- FWCI
- 286.54
- Type
- journal article
- Language
- en
- Update notices
- correction (2024-01-15)
- Open access
- green
- doi.org
- Licence
- Locations
- Nature (publishedVersion)
- bioRxiv (Cold Spring Harbor Laboratory) (acceptedVersion, cc-by)
- PubMed (publishedVersion)
- Research at the University of Copenhagen (University of Copenhagen) (publishedVersion, other-oa)
- University of Groningen research database (University of Groningen / Centre for Information Technology) (publishedVersion)
- PubMed Central (acceptedVersion, other-oa)
- Digital Access to Scholarship at Harvard (DASH) (Harvard University) (submittedVersion)
- RePEc: Research Papers in Economics (submittedVersion)
- Discovery Research Portal (University of Dundee) (submittedVersion)
- Lund University Publications (Lund University) (submittedVersion)
- STM:n Hallinnonalan avoin julkaisuarkisto (Julkari) (submittedVersion)
- Funders
- Wellcome Trust (107469/Z/15/Z)
- National Institutes of Health
- Medical Research Council (MR/L010305/1)
- National Institute of Mental Health (R01MH115957)
- National Human Genome Research Institute (U24HG011450)
- National Institute of Diabetes and Digestive and Kidney Diseases (U54DK105566)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (R01HD081256)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Evolution and Genetic Dynamics
- Keywords
- purifying selection, non-coding DNA, regulatory elements, gnocchi, allele frequency, complex diseases, genetic variants, protein-coding genes, sequence context
- MeSH terms
- Chromosome Mapping, Gene Frequency, Humans, Models, Genetic, Mutation, Selection, Genetic, Genetic Variation, Genome, Human, Access to Information, Genomics, Databases, Genetic, Datasets as Topic
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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