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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
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Shi, X., Wang, S., Yu, S., Jiang, F., Wang, J., Dai, Y., Li, J., Zhang, R., Yin, T., Dai, Y., et al. (2025) · Cell Reports · doi:10.1016/j.celrep.2025.116216 · Cited by 6
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“The high frequency of NTHL1 p.(Gln82*) variant in NATS cases to date is likely not the result of a founder allele, as it is identified in NATS cases of different ancestries and reported in various populations in gnomAD [32].”
Werner, M., Wolff, J. H., Taft, J. D., Zillinger, T., Hinke, D. M., Barfod, T. S., Keukeleere, K. D., Winzig, F., Bundgaard, B. B., Narita, R., et al. (2025) · The Journal of Experimental Medicine · doi:10.1084/jem.20250492 · Cited by 3
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“The minorallelefrequencywasobtained from gnomADv4 56 , 14KJPN 57 , and the Korean Genome Project 58 .”
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Su, W., Yuan, L., He, Z., Ding, F., Sun, J., Xiong, Y., & Song, X. (2026) · Frontiers in Physiology · doi:10.3389/fphys.2025.1733458 · Cited by 3
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Woerner, A. E., Crysup, B., & Coble, M. D. (2026) · Forensic Science International Genetics · doi:10.1016/j.fsigen.2026.103451 · Cited by 3
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Musante, L., Janoš, P., Pianigiani, G., Cappelli, S., Longo, A., Alves, C., Schwaibold, E. M. C., Wagner, M., Costain, G., Friðriksdóttir, R., et al. (2026) · Genome Medicine · doi:10.1186/s13073-026-01610-4 · Cited by 3
“All but two of the single-nucleotide variants (SNVs) and insertion-deletion (indels) variants were absent from the gnomAD population database [39]; the two variants observed there – c.88A>G (one heterozygote; allele frequency: 6.210e-7) and c.2506G>A (one heterozygote; allele frequency: 6.196e-7) –…”
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Tumiene, B., Adams, D. R., Allaway, R. J., Barrero, M. J., Chan, C., Faùndes, V., Fear, V. S., Glezer, P., Fuchs, C., Groza, T., et al. (2026) · Human Genomics · doi:10.1186/s40246-025-00902-x · Cited by 3
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Reilly, P. F., Rong, S., Tejada-Martínez, D., Miller, S. L., Tjahjadi, A., Liu, C., Akers, J. F., Pomer, A., Prentice, M. E., Merriwether, D. A., et al. (2026) · Science · doi:10.1126/science.adr6749 · Cited by 3
Judd, J., Spence, J. P., Milind, N., Kachuri, L., Witte, J. S., & Pritchard, J. K. (2026) · Genetics · doi:10.1093/genetics/iyag150 · Cited by 3
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“We identified derived variants in the different Neanderthal lineages, focusing only on bi-allelic sites in which the global allele frequency of the derived allele was lower than 0.5% among the modern individuals from the gnomAD genome (v.3.1.2) or gnomAD exome (v.4.0) datasets 97 .”
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“…48 existing VEPs together with all FuncVEP and Clin-VEP models (54 total) across evaluation frameworks spanning clinical and functional classification, correlation with MAVEs, discrimination of de novo variants in developmental disorder cohorts, and somatic cancer hotspot mutations 2,24,25,72,73 .”
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Dallali, H., Boukhalfa, W., Kheriji, N., Fassatoui, M., Jmel, H., Hechmi, M., Gouiza, I., Gharbi, M., Kammoun, W., Mrad, M., et al. (2023) · Frontiers in Endocrinology · doi:10.3389/fendo.2023.1293124 · Cited by 3
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Wedd, L., Hort, Y., Patel, C., Sayer, J. A., Rius, R., Mallett, A. J., Cottle, D. L., Smyth, I., Furlong, T. J., Shine, J., et al. (2025) · European Journal of Human Genetics · doi:10.1038/s41431-025-01949-z · Cited by 3
“0, access date 31/01/2024 [42]) was also interrogated to assess for the possibility of a potentially disease-causing variant within the PKD1 5 ′ UTR region.”
Conil, C., Bohlen, J., Kroon, E. E., Juste, M. A. J., Manry, J., Chaldebas, M., Bean, J. M., Walsh, K. F., Dallmann-Sauer, M., Rotival, M., et al. (2025) · Genome Medicine · doi:10.1186/s13073-025-01547-0 · Cited by 4
“First, YEATS4 has a low observed/expected ratio for pLOF variants, indicating strong selection against pLOF (loss-of-function observed/expected upper bound fraction, LOEUF = 0.88) [127].”
InfluentialGWAS SVatalog: a visualization tool to aid fine-mapping of GWAS loci with structural variations
Chirmade, S., Wang, Z., Mastromatteo, S., Sanders, E., Thiruvahindrapuram, B., Nalpathamkalam, T., Pellecchia, G., Fan, L., Keenan, K., Patel, R. V., et al. (2025) · Heredity · doi:10.1038/s41437-025-00809-2 · Cited by 4
“1 (Chen et al. 2024) was used to compare SV boundaries and NAF to this study.”
Integrating natural and engineered genetic variations to decode regulatory influence on blood traits
Tardáguila, M., Schiller, D. V., Colombo, M., Gori, I., Coomber, E. L., Vanderstichele, T., Benaglio, P., Chiereghin, C., Gerety, S. S., Vuckovic, D., et al. (2026) · Cell Reports · doi:10.1016/j.celrep.2026.116937 · Cited by 3
Missense variants in TUBA4A cause myo-tubulinopathies
Johari, M., Folland, C. L., Saito, Y., Oud, M. M., Parmar, J. M., Töpf, A., Kurbatov, S., Ampleeva, M., Zakharova, E. Y., Чекмарева, И. А., et al. (2026) · Brain · doi:10.1093/brain/awag059 · Cited by 3
Self-citationTu, T., Ochoa, A., Sood, A., Dabrik, A., Chryst-Stangl, M., Lane, B. M., Wu, G., Donovan, F. X., Harper, U. L., Chandrasekharappa, S. C., et al. (2026) · Kidney International · doi:10.1016/j.kint.2026.01.026 · Cited by 3
ReBaTSA: A simplified CeTSA protocol for studying recombinant mutant proteins in bacterial extracts
Monticelli, M., Wright, D. M., Cubellis, M. V., & Andreotti, G. (2023) · Biochimica et Biophysica Acta (BBA) - General Subjects · doi:10.1016/j.bbagen.2023.130526 · Cited by 3
Binobaid, L., Sobeai, H. M. A., Alhazzani, K., AlAbdi, L., Alwazae, M. M. S., Alotaibi, M. R., Parrington, J., & Alhoshani, A. (2024) · Saudi Pharmaceutical Journal · doi:10.1016/j.jsps.2024.101961 · Cited by 3
Expanding the molecular and phenotypic spectrum of CTLA‐4 insufficiency
Duke, S., Maiarana, J., Yousefi, P., Burks, E., Gerrie, S. K., Setiadi, A., Hildebrand, K. J., James, E. L., Turvey, S. E., Markle, J., et al. (2024) · Pediatric Allergy and Immunology · doi:10.1111/pai.14077 · Cited by 3
Ma, M., Ganapathi, M., Zheng, Y., Tan, K.-L., Kanca, O., Bove, K. E., Quintanilla, N., Sağ, Ş. Ö., Temel, Ş. G., LeDuc, C. A., et al. (2024) · Genetics in Medicine · doi:10.1016/j.gim.2024.101125 · Cited by 5
Self-citationSangoi, A. R., Pivovarčíková, K., Akgül, M., Williamson, S. R., Ulamec, M., Rogala, J., Martínek, P., Vaněček, T., Hes, O., & Alaghehbandan, R. (2024) · International Journal of Surgical Pathology · doi:10.1177/10668969241239678 · Cited by 3
Bozkurt‐Yozgatli, T., Pehli̇van, D., Gibbs, R. A., Sezerman, O. U., Posey, J. E., Lupski, J. R., & Coban‐Akdemir, Z. (2024) · BMC Medical Genomics · doi:10.1186/s12920-024-01852-4 · Cited by 3
Integrated proteogenomic analysis for inherited bone marrow failure syndrome
Wakamatsu, M., Muramatsu, H., Sato, H., Ishikawa, M., Konno, R., Nakajima, D., Hamada, M., Okuno, Y., Kawashima, Y., Hama, A., et al. (2024) · Leukemia · doi:10.1038/s41375-024-02263-1 · Cited by 3
Krishnamurthy, K., Chai, J. N., Liu, X., Wang, Y., Naeem, R. C., & Goldstein, D. Y. (2024) · American Journal of Clinical Pathology · doi:10.1093/ajcp/aqae063 · Cited by 3
Self-citationGenetic and Clinical Analyses of the KIZ-c.226C>T Variant Resulting in a Dual Mutational Mechanism
Sundaresan, Y., Rivera, A., Obolensky, A., Gopalakrishnan, P., Hadad, H. O., Shemesh, A., Khateb, S., Ross, M., Ofri, R., Durst, S., et al. (2024) · Genes · doi:10.3390/genes15060804 · Cited by 3
Implications of noncoding regulatory functions in the development of insulinomas
Ramos-Rodríguez, M., Subirana-Granés, M., Norris, R., Sordi, V., Fernández, Á., Fuentes-Páez, G., Pérez-González, B., Balaguer, C. B., Raurell‐Vila, H., Chowdhury, M., et al. (2024) · Cell Genomics · doi:10.1016/j.xgen.2024.100604 · Cited by 3
The role of DEAD- and DExH-box RNA helicases in neurodevelopmental disorders
Lederbauer, J., Das, S., Piton, A., Lessel, D., & Kreienkamp, H. (2024) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2024.1414949 · Cited by 3
Ranta‐aho, J., Felice, K. J., Jonson, P. H., Sarparanta, J., Yvorel, C., Harzallah, I., Touraine, R. L., Pais, L. S., Austin-Tse, C. A., Ganesh, V. S., et al. (2024) · Annals of Clinical and Translational Neurology · doi:10.1002/acn3.52154 · Cited by 3
Self-citationPatrick, C., Ettah, U., Nguyen, V., Hart, C., Atchley, E., Mallela, K. M. G., Scheinman, R. I., & Monte, A. A. (2024) · Clinical and Translational Science · doi:10.1111/cts.13888 · Cited by 3
A naturally occurring 22-amino acid fragment of human hemoglobin A inhibits autophagy and HIV-1
Freisem, D., Rodríguez, A., Lawrenz, J., Zhou, Z., Monecke, T., Preising, N., Endres, S., Wiese, S., Ständker, L., Kuan, S. L., et al. (2024) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-024-05447-1 · Cited by 3
Self-citationAhmed, H. A., Abdelkreem, E., Hamed, E. O., Elmahassen, N. A., & Younis, M. A. (2024) · Pediatric Blood & Cancer · doi:10.1002/pbc.31356 · Cited by 3
Biallelic variants in ERLIN1: a series of 13 individuals with spastic paraparesis
Cogan, G., Zaki, M. S., Issa, M. Y., Keren, B., Guillaud-Bataille, M., Renaldo, F., Isapof, A., Lallemant‐Dudek, P., Stévanin, G., Guillot‐Noël, L., et al. (2024) · Human Genetics · doi:10.1007/s00439-024-02702-0 · Cited by 3
de Bruijn, S. E., Panneman, D. M., Weisschuh, N., Cadena, E. L., Boonen, E. G. M., Holtes, L. K., Astuti, G., Cremers, F. P. M., Leijsten, N., Corominas, J., et al. (2024) · Frontiers in Genetics · doi:10.3389/fgene.2024.1469686 · Cited by 3
Novel coenzyme Q6 genetic variant increases susceptibility to pneumococcal disease
Walker, E. C., Javati, S., Todd, E. M., Matlam, J.-P., Lin, X., Bryant, M. K., Krone, E., Ramani, R., Chandra, P., Green, T. P., et al. (2024) · Nature Immunology · doi:10.1038/s41590-024-01998-4 · Cited by 3
Evolutionary history of calcium-sensing receptors unveils hyper/hypocalcemia-causing mutations
Bırcan, A., Kuru, N., Dereli, O., Selçuk, B., & Adebalı, O. (2024) · PLoS Computational Biology · doi:10.1371/journal.pcbi.1012591 · Cited by 2
Muffels, I. J. J., Waterham, H. R., D’Alessandro, G., Zagnoli-Vieira, G., Sacher, M. G., Lefeber, D. J., der Vinne, C. V., Roifman, C. M., van Gassen, K. L. I., Rehmann, H., et al. (2025) · Genome Medicine · doi:10.1186/s13073-025-01433-9 · Cited by 3
Androgen receptor ubiquitination links KCTD13 to genitourinary tract defects
Chahdi, A., Jorgez, C. J., Rosenfeld, J. A., Neetu, N., & Seth, A. (2025) · The FASEB Journal · doi:10.1096/fj.202402072rr · Cited by 3
Miyake, N., Shiga, K., Hasegawa, Y., Iwabuchi, C., Shiroshita, K., Kobayashi, H., Takubo, K., Velilla, F., Maeno, A., Kawasaki, T., et al. (2025) · European Journal of Human Genetics · doi:10.1038/s41431-025-01802-3 · Cited by 3
Conservation assessment of human splice site annotation based on a 470-genome alignment
Minkin, I., & Salzberg, S. L. (2025) · Nucleic Acids Research · doi:10.1093/nar/gkaf184 · Cited by 3
Protocol for the functional evaluation of genetic variants using saturation genome editing
Obolenski, S., Olvera-León, R., Sun, D., Adams, D. J., & Waters, A. J. (2025) · STAR Protocols · doi:10.1016/j.xpro.2025.103710 · Cited by 3
Pivirotto, A. M., Peles, N., & Hey, J. (2025) · G3 Genes Genomes Genetics · doi:10.1093/g3journal/jkaf088 · Cited by 3
Martín, M., & Bolognesi, B. (2025) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2415521122 · Cited by 3
Further Delineation of the AUTS2 HX Repeat Domain‐Related Phenotype
Erdogan, E. N., Cheng, C. V., Caraffi, S. G., Ivanovski, I. P., Piatelli, G., Errichiello, E., Papavasiliou, A. S., Vasileiou, G., Reis, A., Prince, B., et al. (2025) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.64093 · Cited by 3
The Diverse Genetic Landscape of Hearing Impairment in South African Families
Bharadwaj, T., Acharya, A., Manyisa, N. R., Aboagye, E. T., Wonkam, R. P., Xhakaza, L., Popel, K., de Kock, C. A., Schrauwen, I., Wonkam, A., et al. (2025) · Clinical Genetics · doi:10.1111/cge.14765 · Cited by 3
“…was performed by retaining variants with a population-specific minor allele frequency (MAF) 0.005 in the Genome Aggregation database (gnomAD) [17] for pedigrees with an autosomal recessive (AR) or X-linked (XL) mode of inheritance and MAF 0.0005 for pedigrees with an autosomal dominant…”
InfluentialSearch for a genetic cause of variably protease-sensitive prionopathy
Lian, Y., Kotobelli, K., Hall, S. J., Talkowski, M. E., O’Donnell‐Luria, A., Vallabh, S. M., Appleby, B. S., & Minikel, E. V. (2025) · PLoS Pathogens · doi:10.1371/journal.ppat.1013343 · Cited by 3
“1 [30], comprising a total of 807,192 exomes + genomes used for the VPSPr exome analysis, including 76,215 whole genomes relevant for non-coding portions of the PRNP targeted sequencing analysis.”
Self-citationNeonatal diabetes mellitus is a significant feature of COXPD ‐24 caused by recessive NARS2 variants
Donis, R., Wakeling, M. N., Jeffery, N. M., Govier, M., Johnson, M. B., Hassan, S. S., Abdullah, M. A., Eltonbary, K., Parvaneh, N., Amoli, M. M., et al. (2025) · Diabetic Medicine · doi:10.1111/dme.70129 · Cited by 3
“Homozygous and compound heterozygous NARS2 coding variants and variants affecting the canonical splice sites with an allele frequency below 0.01% in gno-mAD_v4 13 were prioritised for analysis and classified according to the American College of Medical Genetics and Genomics (ACMG) guidelines.”
InfluentialRisk of clonal hematopoiesis in families exposed to radiation following the Chornobyl accident
Machiela, M. J., Wong, W. S. W., Mai, Z., Karyadi, D. M., Drozdovitch, V., Chan, I. C. C., Vij, V., Zhou, W., Luo, W., Wu, D., et al. (2025) · Carcinogenesis · doi:10.1093/carcin/bgaf056 · Cited by 4
Esapa, C. T., McIlhinney, R. A. J., Waite, A. J., Benson, M. A., Mirzayan, J., Pikó, H., Herczegfalvi, Á., Horváth, R., Karcagi, V., Walter, M. C., et al. (2023) · Frontiers in Molecular Biosciences · doi:10.3389/fmolb.2023.1279700 · Cited by 2
Ma, K., Huang, S., Ng, K. K. H., Lake, N. J., Joseph, S., Xu, J., Lek, A., Ge, L., Woodman, K. G., Koczwara, K. E., et al. (2023) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2023.07.12.548370 · Cited by 3
Self-citationAn RNA foundation model enables discovery of disease mechanisms and candidate therapeuticsPreprint
Frey, B. J., Celaj, A., Gao, A. J., Lau, T., Holgersen, E. M., Lo, A., Lodaya, V., Cole, C., Denroche, R. E., Spickett, C., et al. (2023) · Research Square · doi:10.21203/rs.3.rs-3373630/v1 · Cited by 3
Hayden, A. N., Brandel-Ankrapp, K. L., Merlau, P. R., Vijayakumar, P., Leptich, E. J., Pietryk, E. W., Gaytan, E. S., Ni, C. W., Chao, H., Rosenfeld, J. A., et al. (2024) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2024.01.05.574402 · Cited by 3
Contribution of de novo retroelements to birth defects and childhood cancersPreprint
Chu, C., Ljungström, V., Tran, A. V., Jin, H., & Park, P. J. (2024) · medRxiv · doi:10.1101/2024.04.15.24305733 · Cited by 3
Chromatinopathies – from discovery to clinical diagnosis in the real world
Russell, B. E., & Tan, W. (2024) · Human Genetics · doi:10.1007/s00439-024-02665-2 · Cited by 3
Proteogenomics analysis of human tissues using pangenomesPreprint
Wang, D., Bouwmeester, R., Zheng, P., Dai, C., Sánchez, A., Shu, K., Bai, M., Umer, H. M., & Pérez‐Riverol, Y. (2024) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2024.05.24.595489 · Cited by 3
Armirola-Ricaurte, C., Morant, L., Adant, I., Hamed, S. A., Pipis, M., Efthymiou, S., Amor‐Barris, S., Atkinson, D., de Vondel, L. V., Tomić, A., et al. (2024) · medRxiv · doi:10.1101/2024.07.03.24309787 · Cited by 3
Kandoor, A. A., Martinez, G., Hitchcock, J. M., Angel, S., Campbell, L., Rizvi, S., & Naegle, K. M. (2024) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2024.07.18.604100 · Cited by 3
Uribe‐Salazar, J. M., Kaya, G., Weyenberg, K., Radke, B., Hino, K., Soto, D. C., Shiu, J.-L., Zhang, W., Ingamells, C., Haghani, N. K., et al. (2024) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2024.09.11.612570 · Cited by 3
Avila, M. N., Jung, S., Satterstrom, F. K., Fu, J. M., Levy, T., Sloofman, L. G., Klei, L., Pichardo, T., Stevens, C. R., Cusick, C. M., et al. (2025) · medRxiv · doi:10.1101/2024.12.27.24319460 · Cited by 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.
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