ArticleNature2022
The sequences of 150,119 genomes in the UK Biobank.
Registry-linked trialOpen access · hybridAbstract read
In one paragraph
Article in Nature, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT06736158 (Early Genomic Testing for Inherited Bleeding Disorders in Patients Without a Diagnosis After First Line Testing), which is not on this map. Cited by 303 papers, 8 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
303citing papers in PubMed, 8 pooled it
92.0field-weighted citation impact, top 1% of its field
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.
NCT06736158 early_phase1recruitingnot on this mapstarted 2025, after this paper: background citation
Early Genomic Testing for Inherited Bleeding Disorders in Patients Without a Diagnosis After First Line Testing: a Randomized Controlled Trial
Who cites it
303 citing papers in PubMed, 8 syntheses or guidelines pooled it, 466 citations in OpenAlex.
- Integrative genome-wide analysis unveils the genetic landscape of gallstone disease and highlights novel loci with therapeutic potential.BMJ open gastroenterology · 2025Pooled it
- Multi-ancestry whole genome sequencing analysis of lean body mass.Genome biology · 2025Pooled it
- Missense variants in FRS3 affect body mass index in populations of diverse ancestries.Nature communications · 2025Pooled it
- Sequencing in over 50,000 cases identifies coding and structural variation underlying atrial fibrillation risk.Nature genetics · 2025Pooled it
- Assessment of the functionality and usability of open-source rare variant analysis pipelines.Briefings in bioinformatics · 2025Pooled it
- Deciphering the role of oxidative stress genes in idiopathic pulmonary fibrosis: a multi-omics mendelian randomization approach.Genes and immunity · 2024Pooled it
- Genome-wide association meta-analysis identifies five loci associated with postpartum hemorrhage.Nature genetics · 2024Pooled it
- Variant effect predictors: a systematic review and practical guide.Human genetics · 2024Pooled it
- An Icelandic pangenome reference.Nature · 2026Article
- Whole genome sequencing of 1427 Mexican individuals from the oriGen cohort.Nature communications · 2026Article
- Characterizing highly conserved fragments in 3'UTRs via statistical and transfer learning approaches.NAR genomics and bioinformatics · 2026Article
- Resistant Hypertension Variants Link to Hyperaldosteronism and Potassium Levels.Hypertension (Dallas, Tex. : 1979) · 2026Article
- Prediction of human missense variant effects from functional evidence.Nature genetics · 2026Article
- Base-pair resolution conservation data improves cell type specific sequence-to-expression prediction.Bioinformatics (Oxford, England) · 2026Article
- preSCRIPT: Large-scale prescription search and annotation engine for pharmacogenomic studies.Pharmacological reports : PR · 2026Article
- Interpretable and Predictive Models Based on High-Dimensional Data in Ecology and Evolution.Molecular ecology resources · 2026Article
- Deep learning prediction of left atrial structure and function from 12-lead electrocardiograms.Nature communications · 2026Article
- Article
- Tandem repeat polymorphisms are associated with brain structure: results of two large population-based studies.Genome medicine · 2026Article
- gAIRR-wgs: high-resolution T cell receptor allele typing in biobank-scale whole-genome sequencing data.Briefings in bioinformatics · 2026Article
243 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
57 authors at 13 institutions in 2 countries.
Bjarni V HalldorssondeCODE genetics/Amgen Inc., Reykjavik, Iceland. bjarnih@decode.is.ORCID http://orcid.org/0000-0003-0756-0767
Hannes P EggertssondeCODE genetics/Amgen Inc., Reykjavik, Iceland.ORCID http://orcid.org/0000-0002-1674-9978
Kristjan H S MooredeCODE genetics/Amgen Inc., Reykjavik, Iceland.
Hannes HauswedelldeCODE genetics/Amgen Inc., Reykjavik, Iceland.
Ogmundur EirikssondeCODE genetics/Amgen Inc., Reykjavik, Iceland.ORCID http://orcid.org/0000-0003-0139-5107
Magnus O UlfarssondeCODE genetics/Amgen Inc., Reykjavik, Iceland.
Gunnar PalssondeCODE genetics/Amgen Inc., Reykjavik, Iceland.ORCID http://orcid.org/0000-0002-8231-3961
Marteinn T HardarsondeCODE genetics/Amgen Inc., Reykjavik, Iceland.
Asmundur OddssondeCODE genetics/Amgen Inc., Reykjavik, Iceland.ORCID http://orcid.org/0000-0002-4606-5163
Brynjar O JenssondeCODE genetics/Amgen Inc., Reykjavik, Iceland.ORCID http://orcid.org/0000-0002-2252-4134
Snaedis KristmundsdottirdeCODE genetics/Amgen Inc., Reykjavik, Iceland.
Brynja D SigurpalsdottirdeCODE genetics/Amgen Inc., Reykjavik, Iceland.
Olafur A StefanssondeCODE genetics/Amgen Inc., Reykjavik, Iceland.ORCID http://orcid.org/0000-0002-9663-3018
Doruk BeyterdeCODE genetics/Amgen Inc., Reykjavik, Iceland.ORCID http://orcid.org/0000-0002-3644-5760
Guillaume HolleydeCODE genetics/Amgen Inc., Reykjavik, Iceland.
Vinicius TragantedeCODE genetics/Amgen Inc., Reykjavik, Iceland.
Arnaldur GylfasondeCODE genetics/Amgen Inc., Reykjavik, Iceland.
Pall I OlasondeCODE genetics/Amgen Inc., Reykjavik, Iceland.
Florian ZinkdeCODE genetics/Amgen Inc., Reykjavik, Iceland.
Margret AsgeirsdottirdeCODE genetics/Amgen Inc., Reykjavik, Iceland.
Sverrir T SverrissondeCODE genetics/Amgen Inc., Reykjavik, Iceland.
Brynjar SigurdssondeCODE genetics/Amgen Inc., Reykjavik, Iceland.
Sigurjon A GudjonssondeCODE genetics/Amgen Inc., Reykjavik, Iceland.
Gunnar T SigurdssondeCODE genetics/Amgen Inc., Reykjavik, Iceland.
Gisli H HalldorssondeCODE genetics/Amgen Inc., Reykjavik, Iceland.ORCID http://orcid.org/0000-0001-7067-9862
Gardar SveinbjornssondeCODE genetics/Amgen Inc., Reykjavik, Iceland.
Kristjan NorlanddeCODE genetics/Amgen Inc., Reykjavik, Iceland.
Unnur StyrkarsdottirdeCODE genetics/Amgen Inc., Reykjavik, Iceland.ORCID http://orcid.org/0000-0001-8146-8278
Droplaug N MagnusdottirdeCODE genetics/Amgen Inc., Reykjavik, Iceland.
Steinunn SnorradottirdeCODE genetics/Amgen Inc., Reykjavik, Iceland.
Kari KristinssondeCODE genetics/Amgen Inc., Reykjavik, Iceland.
Emilia SobechdeCODE genetics/Amgen Inc., Reykjavik, Iceland.
Helgi JonssonLandspitali-University Hospital, Reykjavik, Iceland.
Arni J GeirssonLandspitali-University Hospital, Reykjavik, Iceland.
Isleifur OlafssonLandspitali-University Hospital, Reykjavik, Iceland.
Palmi JonssonLandspitali-University Hospital, Reykjavik, Iceland.
Ole Birger PedersenDepartment of Clinical Immunology, Zealand University Hospital, Køge, Denmark.ORCID http://orcid.org/0000-0003-2312-5976
Christian ErikstrupDepartment of Clinical Medicine, Aarhus University, Aarhus, Denmark.ORCID http://orcid.org/0000-0001-6551-6647
Søren BrunakNovo Nordisk Foundation Center for Protein Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.ORCID http://orcid.org/0000-0003-0316-5866
Sisse Rye OstrowskiDepartment of Clinical Immunology, Copenhagen University Hospital (Rigshospitalet), Copenhagen, Denmark.ORCID http://orcid.org/0000-0001-5288-3851
DBDS Genetic Consortium
Gudmar ThorleifssondeCODE genetics/Amgen Inc., Reykjavik, Iceland.
Frosti JonssondeCODE genetics/Amgen Inc., Reykjavik, Iceland.
Pall MelsteddeCODE genetics/Amgen Inc., Reykjavik, Iceland.
Ingileif JonsdottirdeCODE genetics/Amgen Inc., Reykjavik, Iceland.ORCID http://orcid.org/0000-0001-8339-150X
Thorunn RafnardeCODE genetics/Amgen Inc., Reykjavik, Iceland.ORCID http://orcid.org/0000-0003-0491-7046
Hilma HolmdeCODE genetics/Amgen Inc., Reykjavik, Iceland.ORCID http://orcid.org/0000-0002-9517-6636
Hreinn StefanssondeCODE genetics/Amgen Inc., Reykjavik, Iceland.
Jona SaemundsdottirdeCODE genetics/Amgen Inc., Reykjavik, Iceland.
Daniel F GudbjartssondeCODE genetics/Amgen Inc., Reykjavik, Iceland.ORCID http://orcid.org/0000-0002-5222-9857
Olafur T MagnussondeCODE genetics/Amgen Inc., Reykjavik, Iceland.
Gisli MassondeCODE genetics/Amgen Inc., Reykjavik, Iceland.
Unnur ThorsteinsdottirdeCODE genetics/Amgen Inc., Reykjavik, Iceland.
Agnar HelgasondeCODE genetics/Amgen Inc., Reykjavik, Iceland.
Hakon JonssondeCODE genetics/Amgen Inc., Reykjavik, Iceland.ORCID http://orcid.org/0000-0001-6197-494X
Patrick SulemdeCODE genetics/Amgen Inc., Reykjavik, Iceland.ORCID http://orcid.org/0000-0001-7123-6123
Kari StefanssondeCODE genetics/Amgen Inc., Reykjavik, Iceland. kstefans@decode.is.
deCODE Genetics (Iceland) · ISReykjavík University · ISCopenhagen University Hospital · DKUniversity of Copenhagen · DKAarhus University · DKAarhus University Hospital · DKStatens Serum Institut · DKZealand University Hospital Køge · DKAalborg University Hospital · DKCopenhagen Business School · DKGlostrup Hospital · DKOdense University Hospital · DKZealand University Hospital · DK
Funding
Medical Research Council MC_PC_17228Medical Research Council MC_QA137853Wellcome Trust
Abstract
Detailed knowledge of how diversity in the sequence of the human genome affects phenotypic diversity depends on a comprehensive and reliable characterization of both sequences and phenotypic variation. Over the past decade, insights into this relationship have been obtained from whole-exome sequencing or whole-genome sequencing of large cohorts with rich phenotypic data
Indexed as
Biological Specimen BanksDatabases, GeneticGenetic VariationGenome, HumanGenomicsWhole Genome SequencingAfricaAsiaCohort StudiesConserved SequenceExonsHaplotypesHumansINDEL MutationIrelandMicrosatellite Repeats
Identifiers
What OpenQuestion holds
Textmetadata
LicenceCC BY
Read underepoch 390
Registered trials
NCT06736158ClinicalTrials.gov
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.