ArticleNature2021
Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humans.
Abstract readPublished Erratum
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 60 papers, 1 of them a synthesis that pooled it.
0numbers the graph read from it
0cells of the map it votes in
60citing 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
60 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Identification of genetic risk loci and causal insights associated with Parkinson's disease in African and African admixed populations: a genome-wide association study.The Lancet. Neurology · 2023Pooled it
- Accurate and cost-effective workflow integrating trio pooled-WES for novel gene discovery in neurodevelopmental disorders.European journal of human genetics : EJHG · 2026Article
- Article
- Distinct mutational signature and clonal evolution in constitutional mismatch repair deficiency-associated high-grade gliomas.iScience · 2026Article
- Meta-analysis of genetic regulation of RNA editing in the human brain identifies new genes underlying neurological disease.medRxiv : the preprint server for health sciences · 2025Article
- Prenatal Diagnosis of Bartter Syndrome: Lessons From a Complex Diagnostic Procedure.Clinical case reports · 2025Article
- Lost in .*VCF Translation. From Data Fragmentation to Precision Genomics: Technical, Ethical, and Interpretive Challenges in the Post-Sequencing Era.Journal of personalized medicine · 2025Review
- Clinical Pharmacogenetics: Results After Implementation of Preemptive Tests in Daily Routine.Journal of personalized medicine · 2025Article
- The Germline and Somatic Origins of Prostate Cancer Heterogeneity.Cancer discovery · 2025Article
- A sequence context-based approach for classifying tumor structural variants without paired normal samples.Cell reports methods · 2025Article
- Human CD33 deficiency is associated with mild alteration of circulating white blood cell counts.PLoS genetics · 2025Article
- A Maternal Loss-of-Function Variant in KHDC3L Gene Causes a Range of Adverse Pregnancy Outcomes: A Case Report.Molecular genetics & genomic medicine · 2025Article
- Prenatal diagnosis of aFrontiers in genetics · 2025Article
- Molecular basis of the CYFIP2 and NCKAP1 autism-linked variants in the WAVE regulatory complex.Protein science : a publication of the Protein Society · 2025Article
- Unravelling mutational signatures with plasma circulating tumour DNA.Nature communications · 2024Article
- Genome Sequencing Identifies 13 Novel Candidate Risk Genes for Autism Spectrum Disorder in a Qatari Cohort.International journal of molecular sciences · 2024Article
- Novel variants in CSF1R associated with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP).Journal of neurology · 2024Article
- Comparison of germline and somatic structural variants in cancers reveal systematic differences in variant generating and selection processes.bioRxiv : the preprint server for biology · 2024Article
- Bilateral Uveal Melanoma: An Insight into Genetic Predisposition in Four New Unrelated Patients and Review of Published Cases.Journal of clinical medicine · 2024Article
- Ancestry, race and ethnicity: the role and relevance of language in clinical genetics practice.Journal of medical genetics · 2024Article
Corrections and comments
- Erratum for
Authors and funding
66 authors.
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
Yale Clinical and Translational Science Award (U Component)UL1TR001863 · NCATS · YALE UNIVERSITY · PI John H. Krystal, LUCILA OHNO-MACHADO · 2016 to 2026
$102.9MTraining Program in Bioinformatics and Integrative GenomicsT32HG002295 · NHGRI · MASSACHUSETTS INSTITUTE OF TECHNOLOGY · PI Peter J Park · 2001 to 2026
$15.8MBritish Heart Foundation CS/14/2/30841British Heart Foundation RG/18/10/33842NCATS NIH HHS UL1 TR001863NHGRI NIH HHS T32 HG002295
Abstract
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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 OpenQuestion graph.