Whole-exome imputation within UK Biobank powers rare coding variant association and fine-mapping analyses
出版年份 2021 全文链接
标题
Whole-exome imputation within UK Biobank powers rare coding variant association and fine-mapping analyses
作者
关键词
-
出版物
NATURE GENETICS
Volume 53, Issue 8, Pages 1260-1269
出版商
Springer Science and Business Media LLC
发表日期
2021-07-06
DOI
10.1038/s41588-021-00892-1
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Genetics of 35 blood and urine biomarkers in the UK Biobank
- (2021) Nasa Sinnott-Armstrong et al. NATURE GENETICS
- Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program
- (2021) Daniel Taliun et al. NATURE
- Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts
- (2020) Elizabeth T. Cirulli et al. Nature Communications
- Monogenic and polygenic inheritance become instruments for clonal selection
- (2020) Po-Ru Loh et al. NATURE
- The Polygenic and Monogenic Basis of Blood Traits and Diseases
- (2020) Dragana Vuckovic et al. CELL
- Exome sequencing and characterization of 49,960 individuals in the UK Biobank
- (2020) Cristopher V. Van Hout et al. NATURE
- Identity-by-descent detection across 487,409 British samples reveals fine scale population structure and ultra-rare variant associations
- (2020) Juba Nait Saada et al. Nature Communications
- Predicting Splicing from Primary Sequence with Deep Learning
- (2019) Kishore Jaganathan et al. CELL
- Apparent latent structure within the UK Biobank sample has implications for epidemiological analysis
- (2019) Simon Haworth et al. Nature Communications
- Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls
- (2019) Jason Flannick et al. NATURE
- Exome sequencing of Finnish isolates enhances rare-variant association power
- (2019) Adam E. Locke et al. NATURE
- Rare-variant collapsing analyses for complex traits: guidelines and applications
- (2019) Gundula Povysil et al. NATURE REVIEWS GENETICS
- Mixed-model association for biobank-scale datasets
- (2018) Po-Ru Loh et al. NATURE GENETICS
- From genome-wide associations to candidate causal variants by statistical fine-mapping
- (2018) Daniel J. Schaid et al. NATURE REVIEWS GENETICS
- Medical relevance of protein-truncating variants across 337,205 individuals in the UK Biobank study
- (2018) Christopher DeBoever et al. Nature Communications
- Analysis of predicted loss-of-function variants in UK Biobank identifies variants protective for disease
- (2018) Connor A. Emdin et al. Nature Communications
- Structures of Angptl3 and Angptl4, modulators of triglyceride levels and coronary artery disease
- (2018) Ekaterina Biterova et al. Scientific Reports
- Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies
- (2018) Wei Zhou et al. NATURE GENETICS
- The UK Biobank resource with deep phenotyping and genomic data
- (2018) Clare Bycroft et al. NATURE
- PANTHER version 14: more genomes, a new PANTHER GO-slim and improvements in enrichment analysis tools
- (2018) Huaiyu Mi et al. NUCLEIC ACIDS RESEARCH
- CADD: predicting the deleteriousness of variants throughout the human genome
- (2018) Philipp Rentzsch et al. NUCLEIC ACIDS RESEARCH
- The Gene Ontology Resource: 20 years and still GOing strong
- (2018) NUCLEIC ACIDS RESEARCH
- The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019
- (2018) Annalisa Buniello et al. NUCLEIC ACIDS RESEARCH
- Rare and low-frequency coding variants alter human adult height
- (2017) Eirini Marouli et al. NATURE
- Exome-wide association study of plasma lipids in >300,000 individuals
- (2017) Dajiang J Liu et al. NATURE GENETICS
- ClinVar: improving access to variant interpretations and supporting evidence
- (2017) Melissa J Landrum et al. NUCLEIC ACIDS RESEARCH
- Genotype Imputation with Millions of Reference Samples
- (2016) Brian L. Browning et al. AMERICAN JOURNAL OF HUMAN GENETICS
- FINEMAP: efficient variable selection using summary data from genome-wide association studies
- (2016) Christian Benner et al. BIOINFORMATICS
- Meta-analysis identifies common and rare variants influencing blood pressure and overlapping with metabolic trait loci
- (2016) Chunyu Liu et al. NATURE GENETICS
- Reference-based phasing using the Haplotype Reference Consortium panel
- (2016) Po-Ru Loh et al. NATURE GENETICS
- Fast and accurate long-range phasing in a UK Biobank cohort
- (2016) Po-Ru Loh et al. NATURE GENETICS
- A reference panel of 64,976 haplotypes for genotype imputation
- (2016) NATURE GENETICS
- Next-generation genotype imputation service and methods
- (2016) Sayantan Das et al. NATURE GENETICS
- The SWISS-MODEL Repository—new features and functionality
- (2016) Stefan Bienert et al. NUCLEIC ACIDS RESEARCH
- Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study
- (2016) Frederick E. Dewey et al. SCIENCE
- The Structural Basis for Cdc42-Induced Dimerization of IQGAPs
- (2016) Louis LeCour et al. STRUCTURE
- Efficient Bayesian mixed-model analysis increases association power in large cohorts
- (2015) Po-Ru Loh et al. NATURE GENETICS
- Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel
- (2015) Jie Huang et al. Nature Communications
- Second-generation PLINK: rising to the challenge of larger and richer datasets
- (2015) Christopher C Chang et al. GigaScience
- Rho GTPases in platelet function
- (2012) J. E. ASLAN et al. JOURNAL OF THROMBOSIS AND HAEMOSTASIS
- Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants
- (2012) Wenqing Fu et al. NATURE
- Differential confounding of rare and common variants in spatially structured populations
- (2012) Iain Mathieson et al. NATURE GENETICS
- Conditional and joint multiple-SNP analysis of GWAS summary statistics identifies additional variants influencing complex traits
- (2012) Jian Yang et al. NATURE GENETICS
- Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes
- (2012) J. A. Tennessen et al. SCIENCE
- Rare-Variant Association Testing for Sequencing Data with the Sequence Kernel Association Test
- (2011) Michael C. Wu et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Perilipin Deficiency and Autosomal Dominant Partial Lipodystrophy
- (2011) Sheetal Gandotra et al. NEW ENGLAND JOURNAL OF MEDICINE
Add your recorded webinar
Do you already have a recorded webinar? Grow your audience and get more views by easily listing your recording on Peeref.
Upload NowCreate your own webinar
Interested in hosting your own webinar? Check the schedule and propose your idea to the Peeref Content Team.
Create Now