ArticleNature communications2018
Cohort-wide deep whole genome sequencing and the allelic architecture of complex traits.
Erratum issuedOpen access · goldAbstract read
In one paragraph
Article in Nature communications, 2018. 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 25 papers, 2 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
25citing papers in PubMed, 2 pooled it
3.4field-weighted citation impact, top 7% 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
25 citing papers in PubMed, 2 syntheses or guidelines pooled it, 37 citations in OpenAlex.
- Aggregation tests identify new gene associations with breast cancer in populations with diverse ancestry.Genome medicine · 2023Pooled it
- Gene-based whole genome sequencing meta-analysis of 250 circulating proteins in three isolated European populations.Molecular metabolism · 2022Pooled it
- Rare uniparental lineages reveal external ancestries in the gene pool of the Italian linguistic enclave of Grecìa Salentina.Scientific reports · 2025Article
- An abdominal obesity missense variant in the adipocyte thermogenesis gene TBX15 is implicated in adaptation to cold in Finns.American journal of human genetics · 2024Article
- Regionally enriched rare deleterious exonic variants in the UK and Ireland.Nature communications · 2024Article
- Harnessing Artificial Intelligence in Multimodal Omics Data Integration: Paving the Path for the Next Frontier in Precision Medicine.Annual review of biomedical data science · 2024Review
- Human Y chromosome haplogroup L1-M22 traces Neolithic expansion in West Asia and supports the Elamite and Dravidian connection.iScience · 2024Article
- WGS Data Collections: How Do Genomic Databases Transform Medicine?International journal of molecular sciences · 2023Review
- The cancer-risk variant frequency among Polish population reported by the first national whole-genome sequencing study.Frontiers in oncology · 2023Article
- Contribution of rare whole-genome sequencing variants to plasma protein levels and the missing heritability.Nature communications · 2022Article
- Insights into the genetic architecture of haematological traits from deep phenotyping and whole-genome sequencing for two Mediterranean isolated populations.Scientific reports · 2022Observational
- Gene-Based Variant Analysis of Whole-Exome Sequencing in Relation to Eosinophil Count.Frontiers in immunology · 2022Article
- SARS-CoV-2 susceptibility and COVID-19 disease severity are associated with genetic variants affecting gene expression in a variety of tissues.Cell reports · 2021Article
- Sequencing-based genome-wide association studies reporting standards.Cell genomics · 2021Article
- Insights into genetic factors contributing to variability in SARS-CoV-2 susceptibility and COVID-19 disease severity.medRxiv : the preprint server for health sciences · 2021Article
- PopDel identifies medium-size deletions simultaneously in tens of thousands of genomes.Nature communications · 2021Article
- Sortilin as a Biomarker for Cardiovascular Disease Revisited.Frontiers in cardiovascular medicine · 2021Article
- Whole-genome sequencing analysis of the cardiometabolic proteome.Nature communications · 2020Article
- Medium-coverage DNA sequencing in the design of the genetic association study.European journal of human genetics : EJHG · 2020Article
- Long Non-coding RNAFrontiers in oncology · 2020Article
Corrections and comments
- Erratum issued
Authors and funding
24 authors at 10 institutions in 9 countries.
Arthur GillyDepartment of Human Genetics, Wellcome Sanger Institute, Hinxton, CB10 1SA, United Kingdom.
Daniel SuvegesDepartment of Human Genetics, Wellcome Sanger Institute, Hinxton, CB10 1SA, United Kingdom.
Karoline KuchenbaeckerDepartment of Human Genetics, Wellcome Sanger Institute, Hinxton, CB10 1SA, United Kingdom.
Martin PollardDepartment of Human Genetics, Wellcome Sanger Institute, Hinxton, CB10 1SA, United Kingdom.ORCID http://orcid.org/0000-0001-8738-0920
Lorraine SouthamDepartment of Human Genetics, Wellcome Sanger Institute, Hinxton, CB10 1SA, United Kingdom.ORCID http://orcid.org/0000-0002-7546-9650
Konstantinos HatzikotoulasDepartment of Human Genetics, Wellcome Sanger Institute, Hinxton, CB10 1SA, United Kingdom.ORCID http://orcid.org/0000-0002-4699-3672
Aliki-Eleni FarmakiDepartment of Health Sciences, College of Life Sciences, University of Leicester, Leicester, LE1 6TP, United Kingdom.
Thea BjornlandDepartment of Mathematical Sciences, Norwegian Institute of Science and Technology, Trondheim, 7491, Norway.
Ryan WaplesThe Bioinformatics Centre, Department of Biology, University of Copenhagen, Copenhagen, 2200, Denmark.
Emil V R AppelSection for Metabolic Genetics, Novo Nordisk Foundation Center for Basic Metabolic Research, University of Copenhagen, Copenhagen, 2200, Denmark.ORCID http://orcid.org/0000-0001-7704-6611
Elisabetta CasaloneHuman Genetics Foundation, University of Torino, Torino, IT-10126, Italy.
Giorgio MelloniDepartment of Biomedical Informatics, Harvard Medical School, Boston, 02115, MA, USA.ORCID http://orcid.org/0000-0001-6371-1334
Britt KilianDepartment of Human Genetics, Wellcome Sanger Institute, Hinxton, CB10 1SA, United Kingdom.
Nigel W RaynerDepartment of Human Genetics, Wellcome Sanger Institute, Hinxton, CB10 1SA, United Kingdom.
Ioanna NtallaWilliam Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, EC1M 6BQ, United Kingdom.
Kousik KunduDepartment of Human Genetics, Wellcome Sanger Institute, Hinxton, CB10 1SA, United Kingdom.ORCID http://orcid.org/0000-0002-1019-8351
Klaudia WalterDepartment of Human Genetics, Wellcome Sanger Institute, Hinxton, CB10 1SA, United Kingdom.ORCID http://orcid.org/0000-0003-4448-0301
John DaneshDepartment of Human Genetics, Wellcome Sanger Institute, Hinxton, CB10 1SA, United Kingdom.
Adam ButterworthThe National Institute for Health Research Blood and Transplant Unit (NIHR BTRU) in Donor Health and Genomics at the University of Cambridge, Strangeways Research Laboratory, Wort's Causeway, University of Cambridge, Cambridge, CB1 8RN, United Kingdom.ORCID http://orcid.org/0000-0002-6915-9015
Inês BarrosoDepartment of Human Genetics, Wellcome Sanger Institute, Hinxton, CB10 1SA, United Kingdom.ORCID http://orcid.org/0000-0001-5800-4520
Emmanouil TsafantakisAnogia Medical Centre, Anogia, 740 51, Greece.
George DedoussisDepartment of Nutrition and Dietetics, School of Health Science and Education, Harokopio University of Athens, Athens, 176-71, Greece.
Ida MoltkeThe Bioinformatics Centre, Department of Biology, University of Copenhagen, Copenhagen, 2200, Denmark.ORCID http://orcid.org/0000-0001-7052-8554
Eleftheria ZegginiDepartment of Human Genetics, Wellcome Sanger Institute, Hinxton, CB10 1SA, United Kingdom. Eleftheria@sanger.ac.uk.
Wellcome Sanger Institute · GBUniversity of Cambridge · GBUniversity of Copenhagen · DKCentre for Human Genetics · GBHarokopio University of Athens · GRHarvard University · USItalian institute for Genomic Medicine · ITNorwegian University of Science and Technology · NOQueen Mary University of London · GBUniversity of Leicester · GB
Funding
British Heart Foundation RG/13/13/30194Medical Research Council G0800270Medical Research Council MR/L003120/1Wellcome Trust
Abstract
The role of rare variants in complex traits remains uncharted. Here, we conduct deep whole genome sequencing of 1457 individuals from an isolated population, and test for rare variant burdens across six cardiometabolic traits. We identify a role for rare regulatory variation, which has hitherto been missed. We find evidence of rare variant burdens that are independent of established common variant signals (ADIPOQ and adiponectin, P = 4.2 × 10
Indexed as
AllelesQuantitative Trait, HeritableWhole Genome SequencingCohort StudiesGene FrequencyGenetic VariationHumans
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.