ArticleNature2024
A deep catalogue of protein-coding variation in 983,578 individuals.
Erratum issuedAbstract read
In one paragraph
Article in Nature, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 71 papers, 1 of them a synthesis that pooled it.
0numbers the graph read from it
0cells of the map it votes in
71citing papers in PubMed, 1 pooled it
–field-weighted citation impact
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
71 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Meta-analysis across six global biobanks identifies recessive coding associations with complex traits and diseases.American journal of human genetics · 2026Pooled it
- AlphaGenome Atlas:medRxiv : the preprint server for health sciences · 2026Article
- Cardiomyocyte vulnerability to lamin polymer disruption revealed by saturation mutagenesis.bioRxiv : the preprint server for biology · 2026Article
- The contribution of common and rare genetic variation to emotional and behavioural symptoms in childhood and adolescence.Molecular psychiatry · 2026Article
- Article
- Revisiting retinal and macular degeneration in the genomics era.Nature reviews. Genetics · 2026Review
- Common and rare genetic variant associations with cognitive performance across development in British birth cohorts.Nature human behaviour · 2026Article
- Prediction of human missense variant effects from functional evidence.Nature genetics · 2026Article
- Essentiality-driven prediction of anticancer drug responses in preclinical and clinical contexts.iScience · 2026Article
- Comprehensive Assessment of the KDM2B-Associated Neurodevelopmental Disorder and the 12q24.31 Microdeletion Syndrome.Clinical genetics · 2026Article
- Voltage-Gated Sodium Channel NaBiochemical genetics · 2026Article
- Article
- Spliceosome buffers cryptic genetic variation to enforce phenotypic robustness inScience advances · 2026Article
- Target identification and assessment in the era of AI.Nature reviews. Drug discovery · 2026Review
- Rare protein-coding variation and the genetic architecture of height in >1.4 million individuals.medRxiv : the preprint server for health sciences · 2026Article
- MuSA: a Nextflow pipeline for deep, reproducible annotation and clinical ranking of genomic variants.BMC bioinformatics · 2026Article
- Inference of elevated mutation rates and variant effects using 700k exomes.bioRxiv : the preprint server for biology · 2026Article
- Exome-wide association study of blood lipids in 1,158,017 individuals from diverse populations.Nature genetics · 2026Article
- Massively parallel functional genomic assays in endocrinology: from promise to delivery.Journal of molecular endocrinology · 2026Review
- The Human Pleiotropic Map of GWAS Associations and Therapeutic Implications.bioRxiv : the preprint server for biology · 2026Article
11 more citing papers are in PubMed but not listed here.
Corrections and comments
- Erratum issued
Authors and funding
50 authors.
Kathie Y Sun *Regeneron Genetics Center, Tarrytown, NY, USA.ORCID 0000-0003-1200-452X
Xiaodong Bai *Regeneron Genetics Center, Tarrytown, NY, USA.
Siying ChenRegeneron Genetics Center, Tarrytown, NY, USA.
Suying BaoRegeneron Genetics Center, Tarrytown, NY, USA.ORCID 0000-0002-6220-0257
Chuanyi ZhangRegeneron Genetics Center, Tarrytown, NY, USA.
Manav KapoorRegeneron Genetics Center, Tarrytown, NY, USA.ORCID 0000-0001-6682-940X
Joshua BackmanRegeneron Genetics Center, Tarrytown, NY, USA.ORCID 0000-0001-7262-0880
Tyler JosephRegeneron Genetics Center, Tarrytown, NY, USA.
Evan MaxwellRegeneron Genetics Center, Tarrytown, NY, USA.
George MitraRegeneron Genetics Center, Tarrytown, NY, USA.
Alexander GorovitsRegeneron Genetics Center, Tarrytown, NY, USA.
Adam MansfieldRegeneron Genetics Center, Tarrytown, NY, USA.
Boris BoutkovRegeneron Genetics Center, Tarrytown, NY, USA.
Sujit GokhaleRegeneron Genetics Center, Tarrytown, NY, USA.
Lukas HabeggerRegeneron Genetics Center, Tarrytown, NY, USA.
Anthony MarckettaRegeneron Genetics Center, Tarrytown, NY, USA.
Adam E LockeRegeneron Genetics Center, Tarrytown, NY, USA.ORCID 0000-0001-6227-198X
Liron GanelRegeneron Genetics Center, Tarrytown, NY, USA.ORCID 0000-0002-8762-622X
Alicia HawesRegeneron Genetics Center, Tarrytown, NY, USA.
Michael D KesslerRegeneron Genetics Center, Tarrytown, NY, USA.
Deepika SharmaRegeneron Genetics Center, Tarrytown, NY, USA.
Jeffrey StaplesRegeneron Genetics Center, Tarrytown, NY, USA.
Jonas BovijnRegeneron Genetics Center, Tarrytown, NY, USA.
Sahar GelfmanRegeneron Genetics Center, Tarrytown, NY, USA.
Alessandro Di GioiaRegeneron Genetics Center, Tarrytown, NY, USA.
Veera M RajagopalRegeneron Genetics Center, Tarrytown, NY, USA.ORCID 0000-0002-5236-168X
Alexander LopezRegeneron Genetics Center, Tarrytown, NY, USA.
Jennifer Rico VarelaRegeneron Genetics Center, Tarrytown, NY, USA.
Jesús Alegre-DíazFaculty of Medicine, National Autonomous University of Mexico (UNAM), Mexico City, Mexico.ORCID 0000-0001-9390-3871
Jaime BerumenFaculty of Medicine, National Autonomous University of Mexico (UNAM), Mexico City, Mexico.ORCID 0000-0001-6707-3317
Roberto Tapia-ConyerFaculty of Medicine, National Autonomous University of Mexico (UNAM), Mexico City, Mexico.ORCID 0000-0003-3814-2904
Pablo Kuri-MoralesFaculty of Medicine, National Autonomous University of Mexico (UNAM), Mexico City, Mexico.ORCID 0000-0002-0704-9507
Jason TorresClinical Trial Service Unit and Epidemiological Studies Unit, Nuffield Department of Population Health, University of Oxford, Oxford, UK.ORCID 0000-0002-7537-7035
Jonathan EmbersonClinical Trial Service Unit and Epidemiological Studies Unit, Nuffield Department of Population Health, University of Oxford, Oxford, UK.ORCID 0000-0001-7792-9422
Rory CollinsClinical Trial Service Unit and Epidemiological Studies Unit, Nuffield Department of Population Health, University of Oxford, Oxford, UK.
Regeneron Genetics Center
RGC-ME Cohort Partners
Michael CantorRegeneron Genetics Center, Tarrytown, NY, USA.ORCID 0000-0002-1074-1203
Timothy ThorntonRegeneron Genetics Center, Tarrytown, NY, USA.ORCID 0000-0001-7071-2642
Hyun Min KangRegeneron Genetics Center, Tarrytown, NY, USA.
John D OvertonRegeneron Genetics Center, Tarrytown, NY, USA.
Alan R ShuldinerRegeneron Genetics Center, Tarrytown, NY, USA.ORCID 0000-0001-9921-4305
M Laura CremonaRegeneron Genetics Center, Tarrytown, NY, USA.
Mona NafdeRegeneron Genetics Center, Tarrytown, NY, USA.
Aris BarasRegeneron Genetics Center, Tarrytown, NY, USA.ORCID 0000-0002-6830-3396
Gonçalo AbecasisRegeneron Genetics Center, Tarrytown, NY, USA.ORCID 0000-0003-1509-1825
Jonathan MarchiniRegeneron Genetics Center, Tarrytown, NY, USA.ORCID 0000-0003-0610-8322
Jeffrey G ReidRegeneron Genetics Center, Tarrytown, NY, USA.ORCID 0000-0001-8645-4713
William SalernoRegeneron Genetics Center, Tarrytown, NY, USA. william.salerno@regeneron.com.ORCID 0000-0003-2975-4108
Suganthi BalasubramanianRegeneron Genetics Center, Tarrytown, NY, USA. suganthi.bala@regeneron.com.ORCID 0000-0003-2243-5948
Funding
Identification of Genes Involved in Major Mood DisordersZIAMH002843 · NIMH · NATIONAL INSTITUTE OF MENTAL HEALTH · PI MCMAHON, FRANCIS J · 2009 to 2025
$24.5MGenetic Susceptibility and Biomarkers of Platinum-related ToxicitiesR01CA157823 · NCI · UNIVERSITY OF ROCHESTER · PI TRAVIS, LOIS B. · 2012 to 2025
$11.2MGenome-wide Pleiotropy Scan across Multiple CancersR01CA201358 · NCI · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI GRAFF, REBECCA ELIZABETH, SAKODA, LORI · 2016 to 2019
$2.5MIntramural NIH HHS ZIA MH002843Medical Research Council MR/Z504543/1NCI NIH HHS R01 CA157823NCI NIH HHS R01 CA201358
Abstract
Rare coding variants that substantially affect function provide insights into the biology of a gene
Indexed as
ExomeGenetic VariationProteinsAllelesExome SequencingGene FrequencyHeterozygoteHumansLoss of Function MutationMutation, MissenseOpen Reading FramesPrecision MedicineRNA Splice SitesProteinsRNA Splice Sites
Identifiers
What Socratic holds
Textmetadata
LicenceCC BY
Read underepoch 390
Registered trials
None linked
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.