UK Biobank
English
Hong Kong, Tseung Kwan O
DNAnexus
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相关论文
19Rare loss-of-function variants in HECTD2 and AKAP11 confer risk of bipolar disorder
Thorgeir E. Thorgeirsson•Vinicius Tragante•Gardar Sveinbjornsson•Gudrun A. Jonsdottir•G. Bragi Walters等 30 人
Nature Genetics
2025
•2025/3/25
•Vol.57 No.4 p.851-855
Bipolar disorder is a highly heritable psychiatric disorder; genome-wide association studies of bipolar disorder have yielded over 60 risk loci harboring common variants. To harness the information contained in rare loss-of-function (LOF) variants, holding promise for informing on the underlying bio...
Bipolar disorderGenome-wide association studies
10.1038/S41588-025-02141-1
ISSN:1061-4036
Imputation of low-coverage sequencing data from 150,119 UK Biobank genomes
Simone Rubinacci•Robin J. Hofmeister•Bárbara Sousa da Mota•Olivier Delaneau
Nature Genetics
2023
•2023/6/29
•00 p.1-3
The release of 150,119 UK Biobank sequences represents an unprecedented opportunity as a reference panel to impute low-coverage whole-genome sequencing data with high accuracy but current methods cannot cope with the size of the data. Here we introduce GLIMPSE2, a low-coverage whole-genome sequencin...
DNA sequencingSoftware
10.1038/S41588-023-01438-3
ISSN:1061-4036
Complex genetic effects linked to plasma protein abundance in the UK Biobank
Arnor I. Sigurdsson•Justus F. Gräf•Zhiyu Yang•Kirstine Ravn•Jonas Meisner等 17 人
Nature Communications
2025
•2025/12/14
0Understanding genetic associations of proteins is important for studying the molecular effect of genetic variation. A key component of this is to understand the role of complex genetic effects such as dominance and epistasis that are associated with plasma proteins. Therefore, we develop EIR-auto-GP...
BiomarkersGenome informaticsMachine learningProteome informatics
10.1038/S41467-025-67235-0
ISSN:2041-1723
Whole-genome sequencing of 490,640 UK Biobank participants
Nature
2025
•2025/8/6
•00 p.1-10
Whole-genome sequencing provides an unbiased and complete view of the human genome and enables the discovery of genetic variation without the technical limitations of other genotyping technologies. Here we report on whole-genome sequencing of 490,640 UK Biobank participants, building on previous gen...
Genetics researchGenome-wide association studiesNext-generation sequencingRare variants
10.1038/S41586-025-09272-9
ISSN:0028-0836
Sequence variants affecting the genome-wide rate of germline microsatellite mutations
Snaedis Kristmundsdottir•Hakon Jonsson•Marteinn T. Hardarson•Gunnar Palsson•Doruk Beyter等 23 人
Nature Communications
2023
•2023/6/29
•Vol.14 No.1 p.1-12
Microsatellites are polymorphic tracts of short tandem repeats with one to six base-pair (bp) motifs and are some of the most polymorphic variants in the genome. Using 6084 Icelandic parent-offspring trios we estimate 63.7 (95% CI: 61.9–65.4) microsatellite de novo mutations (mDNMs) per offspring pe...
Evolutionary geneticsGenetic markersMutation
10.1038/S41467-023-39547-6
ISSN:2041-1723
Nuclear genetic control of mtDNA copy number and heteroplasmy in humans
Rahul Gupta•Masahiro Kanai•Timothy J. Durham•Kristin Tsuo•Jason G. McCoy等 12 人
Nature
2023
•2023/8/16
•00 p.1-10
Mitochondrial DNA (mtDNA) is a maternally inherited, high-copy-number genome required for oxidative phosphorylation1. Heteroplasmy refers to the presence of a mixture of mtDNA alleles in an individual and has been associated with disease and ageing. Mechanisms underlying common variation i...
BioenergeticsGenome-wide association studiesMitochondrial genomePopulation genetics
10.1038/S41586-023-06426-5
ISSN:0028-0836
Large-scale plasma proteomics comparisons through genetics and disease associations
Grimur Hjorleifsson Eldjarn•Egil Ferkingstad•Sigrun H. Lund•Hannes Helgason•Olafur Th. Magnusson等 33 人
Nature
2023
•2023/10/4
•Vol.622 No.7982 p.348-358
High-throughput proteomics platforms measuring thousands of proteins in plasma combined with genomic and phenotypic information have the power to bridge the gap between the genome and diseases. Here we performed association studies of Olink Explore 3072 data generated by the UK Biobank Pharma Proteo...
Genome-wide association studiesPopulation geneticsProteomic analysisProteomicsQuantitative trait
10.1038/S41586-023-06563-X
ISSN:0028-0836
Deciphering the genetics and mechanisms of predisposition to multiple myeloma
Molly Went•Laura Duran-Lozano•Gisli H. Halldorsson•Andrea Gunnell•Nerea Ugidos-Damboriena等 50 人
Nature Communications
2024
•2024/8/5
•Vol.15 No.1 p.1-15
Multiple myeloma (MM) is an incurable malignancy of plasma cells. Epidemiological studies indicate a substantial heritable component, but the underlying mechanisms remain unclear. Here, in a genome-wide association study totaling 10,906 cases and 366,221 controls, we identify 35 MM risk loci, 12 of ...
Genetics researchMyeloma
10.1038/S41467-024-50932-7
ISSN:2041-1723
Peripheral immune cell abundance differences link blood mitochondrial DNA copy number and Parkinson’s disease
Longfei Wang•Jiru Han•Liam G. Fearnley•Michael Milton•Haloom Rafehi等 11 人
Npj Parkinson's Disease
2024
•2024/11/14
•Vol.10 No.1 p.1-10
Mitochondrial dysfunction plays an important role in Parkinson’s disease (PD), with mitochondrial DNA copy number (mtDNA-CN) emerging as a potential marker for mitochondrial health. We investigated the links between blood mtDNA-CN and PD severity and risk using the Accelerating Medicines Partnership...
Diagnostic markersHigh-throughput screening
10.1038/S41531-024-00831-X
ISSN:2373-8057
Mechanism of age-related accumulation of mtDNA mutations in human blood
Rahul Gupta•Timothy J. Durham•Grant Chau•Masahiro Kanai•Md Mesbah Uddin等 13 人
Nature
2026
•2026/5/27
•00 p.1-9
Accumulation of mutant mitochondrial DNA (mtDNA) heteroplasmy is among the strongest signatures of ageing1. Here we investigated the underlying mechanism by calling mtDNA sequence, mtDNA abundance and mtDNA heteroplasmic variants in human blood using whole-genome sequences from approximately 750,000...
AgeingGenetic variationGenome-wide association studiesMitochondrial genomeMutation
10.1038/S41586-026-10569-6
ISSN:0028-0836
The sequences of 150,119 genomes in the UK Biobank
Halldorsson Bjarni V.•Eggertsson Hannes P.•Moore Kristjan H. S.•Hauswedell Hannes•Eiriksson Ogmundur等 56 人
Nature
2022
•2022/7/20
•Vol.607 No.7920 p.732-740
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 sequenci...
DNA sequencingGenetic markersGenetic variationGenetics researchGenome-wide association studies
10.1038/S41586-022-04965-X
ISSN:0028-0836
Exome sequencing points to pathogenic ATM variants in gastric cancer
Laura L. Koebbe•Timo Hess•Stephan L. Haas•Ines Gockel•Guillaume Piessen等 43 人
European Journal Of Human Genetics
2025
•2025/12/26
•00 p.1-6
Gastric cancer (GC) is a leading cause of cancer-related deaths worldwide. While most cases result from the cumulative risk of common genetic variants, a smaller proportion shows a monogenic etiology. We used germline exome sequencing data to assess the gene-based burden of loss-of-function pathogen...
Cancer geneticsGastrointestinal cancerGenetics researchRisk factorsStomach
10.1038/S41431-025-01994-8
ISSN:1018-4813
Genetics and epidemiology of mutational barcode-defined clonal hematopoiesis
Simon N. Stacey•Florian Zink•Gisli H. Halldorsson•Lilja Stefansdottir•Sigurjon A. Gudjonsson等 31 人
Nature Genetics
2023
•2023/11/6
•00 p.1-11
Clonal hematopoiesis (CH) arises when a substantial proportion of mature blood cells is derived from a single hematopoietic stem cell lineage. Using whole-genome sequencing of 45,510 Icelandic and 130,709 UK Biobank participants combined with a mutational barcode method, we identified 16,306 people ...
AgeingGenome-wide association studiesMyelodysplastic syndrome
10.1038/S41588-023-01555-Z
ISSN:1061-4036
Noncoding rare variant associations with blood traits in 166,740 UK Biobank genomes
Diogo M. Ribeiro•Robin J. Hofmeister•Simone Rubinacci•Olivier Delaneau
Nature Genetics
2025
•2025/8/6
•00 p.1-10
Large biobanks with whole-genome sequencing (WGS) now enable the association of noncoding rare variants with complex human traits. Given that >98% of the genome is available for exploration, the selection of noncoding variants remains a critical yet unresolved challenge in these analyses. Here we...
DNA sequencingGenetic association study
10.1038/S41588-025-02288-X
ISSN:1061-4036
Computationally efficient meta-analysis of gene-based tests using summary statistics in large-scale genetic studies
Tyler A. Joseph•Joelle Mbatchou•Arkopravo Ghosh•Anthony Marcketta•Christopher E. Gillies等 15 人
Nature Genetics
2025
•2025/11/12
•00 p.1-8
Meta-analysis of gene-based tests using single-variant summary statistics is a powerful strategy for genetic association studies. However, current approaches require sharing the covariance matrix between variants for each study and trait of interest. For large-scale studies with many phenotypes, the...
Genome-wide association studiesSoftware
10.1038/S41588-025-02390-0
ISSN:1061-4036
Yield of genetic association signals from genomes, exomes and imputation in the UK Biobank
Sheila M. Gaynor•Tyler Joseph•Xiaodong Bai•Yuxin Zou•Boris Boutkov等 20 人
Nature Genetics
2024
•2024/9/25
•00 p.1-7
Whole-genome sequencing (WGS), whole-exome sequencing (WES) and array genotyping with imputation (IMP) are common strategies for assessing genetic variation and its association with medically relevant phenotypes. To date, there has been no systematic empirical assessment of the yield of these approa...
DNA sequencingGenetics research
10.1038/S41588-024-01930-4
ISSN:1061-4036
Evaluating the cost-effectiveness of polygenic risk score-stratified screening for abdominal aortic aneurysm
M. Kelemen•J. Danesh•E. Di Angelantonio•M. Inouye•J. O’Sullivan等 11 人
Nature Communications
2024
•2024/9/14
•Vol.15 No.1 p.1-10
As the heritability of abdominal aortic aneurysm (AAA) is high and AAA partially shares genetic architecture with other cardiovascular diseases, genetic information could help inform AAA screening strategies. Exploiting pleiotropy and meta-analysing summary data from large studies, we construct a po...
Aortic diseasesHealth care economicsPersonalized medicinePopulation screening
10.1038/S41467-024-52452-W
ISSN:2041-1723
Flexible read-aware genotype imputation from sequence using biobank sized reference panels
Zilong Li•Anders Albrechtsen•Robert W. Davies
Nature Communications
2025
•2025/12/13
0Inexpensive and accurate genotyping methods are essential to modern genomics and health risk prediction. Here we introduce QUILT2, a scalable and read-aware imputation method that can efficiently use biobank scale haplotype reference panels. This allows for fast and accurate imputation using short r...
HaplotypesSoftwareStatistics
10.1038/S41467-025-67218-1
ISSN:2041-1723
Accurate rare variant phasing of whole-genome and whole-exome sequencing data in the UK Biobank
Robin J. Hofmeister•Diogo M. Ribeiro•Simone Rubinacci•Olivier Delaneau
Nature Genetics
2023
•2023/6/29
•00 p.1-7
Phasing involves distinguishing the two parentally inherited copies of each chromosome into haplotypes. Here, we introduce SHAPEIT5, a new phasing method that quickly and accurately processes large sequencing datasets and applied it to UK Biobank (UKB) whole-genome and whole-exome sequencing data. W...
Population geneticsSoftware
10.1038/S41588-023-01415-W
ISSN:1061-4036