ArticleNature2021
Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans.
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In one paragraph
Article in Nature, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers.
0numbers the graph read from it
0cells of the map it votes in
40citing papers in PubMed
–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
40 citing papers in PubMed.
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- Population-scale genomic screening reveals high frequency of actionable secondary findings in Chinese newborns.NPJ genomic medicine · 2026Article
- Case report: Characterization of a patient with novel biallelic variants inFrontiers in genetics · 2026Article
- Frequent Detection ofHuman mutation · 2026Article
- Genetic and clinical aspects of TMC1-related hearing loss in Iranian families: identification of two novel variants.Molecular biology reports · 2025Article
- Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database.Nature communications · 2025Article
- Off-target effects in CRISPR-Cas genome editing for human therapeutics: Progress and challenges.Molecular therapy. Nucleic acids · 2025Review
- Prenatal Diagnosis of Bartter Syndrome: Lessons From a Complex Diagnostic Procedure.Clinical case reports · 2025Article
- C-terminal frameshift variants in GPKOW are associated with a multisystemic X-linked disorder.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- Di-Genic Inheritance in Genodermatoses: Insights from Two Consanguineous Cases in a Reference Lebanese Center within the Middle East and North Africa (MENA) Region.Dermatology practical & conceptual · 2025Article
- Structural and functional prediction, evaluation, and validation in the post-sequencing era.Computational and structural biotechnology journal · 2024Review
- Proteome-scale characterisation of motif-based interactome rewiring by disease mutations.Molecular systems biology · 2024Article
- Whole-exome sequencing reveals novel cancer genes and actionable targets in biliary tract cancers in primary sclerosing cholangitis.Hepatology communications · 2024Article
- Discovering predisposing genes for hereditary breast cancer using deep learning.Briefings in bioinformatics · 2024Article
- Shared and distinct mechanisms of UBA1 inactivation across different diseases.The EMBO journal · 2024Article
- Interpreting variants in genes affected by clonal hematopoiesis in population data.Human genetics · 2024Review
- Bi-allelic truncating variants in CASP2 underlie a neurodevelopmental disorder with lissencephaly.European journal of human genetics : EJHG · 2024Article
Corrections and comments
- Erratum for
Authors and funding
67 authors.
Sanna GudmundssonProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Konrad J KarczewskiProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA. konradk@broadinstitute.org.ORCID http://orcid.org/0000-0003-2878-4671
Laurent C FrancioliProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0002-3039-8895
Grace TiaoProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Beryl B CummingsProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Jessica AlföldiProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0001-9713-6200
Qingbo WangProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0002-9110-5830
Ryan L CollinsProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0003-1268-9995
Kristen M LaricchiaProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Andrea GannaProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Daniel P BirnbaumProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Laura D GauthierData Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Harrison BrandProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Matthew SolomonsonProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Nicholas A WattsProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Daniel RhodesCentre for Translational Bioinformatics, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London and Barts Health NHS Trust, London, UK.
Moriel Singer-BerkProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Eleina M EnglandProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Eleanor G SeabyProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Jack A KosmickiProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Raymond K WaltersProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0001-8422-6530
Katherine TashmanProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Yossi FarjounData Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0002-7002-2868
Eric BanksData Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Timothy PoterbaProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Arcturus WangProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Cotton SeedProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Nicola WhiffinProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Jessica X ChongDepartment of Pediatrics, University of Washington, Seattle, WA, USA.
Kaitlin E SamochaWellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.ORCID http://orcid.org/0000-0002-1704-3352
Emma Pierce-HoffmanProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Zachary ZappalaProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Anne H O'Donnell-LuriaProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0001-6418-9592
Eric Vallabh MinikelProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Ben WeisburdData Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Monkol LekDepartment of Genetics, Yale School of Medicine, New Haven, CT, USA.
James S WareProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0002-6110-5880
Christopher VittalAnalytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.
Irina M ArmeanProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0002-1043-4756
Louis BergelsonData Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Kristian CibulskisData Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Kristen M ConnollyBroad Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Miguel CovarrubiasData Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Stacey DonnellyProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Steven FerrieraBroad Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Stacey GabrielBroad Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Jeff GentryData Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Namrata GuptaProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Thibault JeandetData Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Diane KaplanData Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Christopher LlanwarneData Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Ruchi MunshiData Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Sam NovodData Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Nikelle PetrilloData Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
David RoazenData Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Valentin Ruano-RubioData Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Andrea SaltzmanProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Molly SchleicherProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Jose SotoData Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Kathleen TibbettsData Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Charlotte TolonenData Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Gordon WadeData Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Michael E TalkowskiProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0003-2889-0992
Genome Aggregation Database Consortium
Benjamin M NealeProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0003-1513-6077
Mark J DalyProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Daniel G MacArthurProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA. d.macarthur@garvan.org.au.ORCID http://orcid.org/0000-0002-5771-2290
Funding
The Genome Aggregation Database (gnomAD)U24HG011450 · NHGRI · BROAD INSTITUTE, INC. · PI Mark Joseph Daly, Konrad Karczewski · 2021 to 2026
$22.3MAfrican Ancestry Genomic Psychiatry CohortR01MH104964 · NIMH · SUNY DOWNSTATE MEDICAL CENTER · PI BIGDELI, TIM BERNARD, FANOUS, AYMAN H · 2015 to 2024
$16.7MTraining Program in Bioinformatics and Integrative GenomicsT32HG002295 · NHGRI · MASSACHUSETTS INSTITUTE OF TECHNOLOGY · PI Peter J Park · 2001 to 2026
$15.8MLatino Ancestry Genomic Psychiatry CohortR01MH123451 · NIMH · SUNY DOWNSTATE MEDICAL CENTER · PI BIGDELI, TIM BERNARD, FANOUS, AYMAN H · 2020 to 2025
$7.1MMedical Research Council MC_UP_1102/20NHGRI NIH HHS T32 HG002295NHGRI NIH HHS U24 HG011450NIMH NIH HHS R01 MH104964NIMH NIH HHS R01 MH123451Wellcome Trust 212945/Z/18/Z
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