标题
Exome sequencing and characterization of 49,960 individuals in the UK Biobank
作者
关键词
-
出版物
NATURE
Volume -, Issue -, Pages -
出版商
Springer Science and Business Media LLC
发表日期
2020-10-22
DOI
10.1038/s41586-020-2853-0
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。- The mutational constraint spectrum quantified from variation in 141,456 humans
- (2020) Konrad J. Karczewski et al. NATURE
- Varicose veins of lower extremities: Insights from the first large-scale genetic study
- (2019) Alexandra S. Shadrina et al. PLoS Genetics
- Cohort profile: East London genes & health (ELGH), a community-based population genomics and health study of British Bangladeshi and British Pakistani people
- (2019) Sarah Finer et al. INTERNATIONAL JOURNAL OF EPIDEMIOLOGY
- A Protein-Truncating HSD17B13 Variant and Protection from Chronic Liver Disease
- (2018) Noura S. Abul-Husn et al. NEW ENGLAND JOURNAL OF MEDICINE
- Analysis of predicted loss-of-function variants in UK Biobank identifies variants protective for disease
- (2018) Connor A. Emdin et al. Nature Communications
- Global Biobank Engine: enabling genotype-phenotype browsing for biobank summary statistics
- (2018) Gregory McInnes et al. BIOINFORMATICS
- The UK Biobank resource with deep phenotyping and genomic data
- (2018) Clare Bycroft et al. NATURE
- Early cancer diagnoses through BRCA1/2 screening of unselected adult biobank participants
- (2017) Adam H Buchanan et al. GENETICS IN MEDICINE
- Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity
- (2017) Danish Saleheen et al. NATURE
- Genetic and Pharmacologic Inactivation of ANGPTL3 and Cardiovascular Disease
- (2017) Frederick E. Dewey et al. NEW ENGLAND JOURNAL OF MEDICINE
- A large multi-ethnic genome-wide association study identifies novel genetic loci for intraocular pressure
- (2017) Hélène Choquet et al. Nature Communications
- A rare IL33 loss-of-function mutation reduces blood eosinophil counts and protects from asthma
- (2017) Dirk Smith et al. PLoS Genetics
- Association of Body Mass Index With Cardiometabolic Disease in the UK Biobank
- (2017) Donald M. Lyall et al. JAMA Cardiology
- Platelet-Related Variants Identified by Exomechip Meta-analysis in 157,293 Individuals
- (2016) John D. Eicher et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Rare variants inGP1BBare responsible for autosomal dominant macrothrombocytopenia
- (2016) Suthesh Sivapalaratnam et al. BLOOD
- The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease
- (2016) William J. Astle et al. CELL
- Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics
- (2016) Sarah S. Kalia et al. GENETICS IN MEDICINE
- Detection and interpretation of shared genetic influences on 42 human traits
- (2016) Joseph K Pickrell et al. NATURE GENETICS
- Osteocytic signalling pathways as therapeutic targets for bone fragility
- (2016) Lilian I. Plotkin et al. Nature Reviews Endocrinology
- Inherited thrombocytopenia: novel insights into megakaryocyte maturation, proplatelet formation and platelet lifespan
- (2016) Ben Johnson et al. PLATELETS
- Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study
- (2016) Frederick E. Dewey et al. SCIENCE
- Genetic identification of familial hypercholesterolemia within a single U.S. health care system
- (2016) Noura S. Abul-Husn et al. SCIENCE
- A genomic approach to therapeutic target validation identifies a glucose-lowering GLP1R variant protective for coronary heart disease
- (2016) Robert A. Scott et al. Science Translational Medicine
- Height, body mass index, and socioeconomic status: mendelian randomisation study in UK Biobank
- (2016) Jessica Tyrrell et al. BMJ-British Medical Journal
- Height, body mass index, and socioeconomic status: mendelian randomisation study in UK Biobank
- (2016) Jessica Tyrrell et al. BMJ-British Medical Journal
- Age dependent regulation of bone-mass and renal function by the MEPE ASARM-motif
- (2015) Lesya V. Zelenchuk et al. BONE
- Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis
- (2015) Elisavet Fotiou et al. Nature Communications
- UK Biobank: An Open Access Resource for Identifying the Causes of a Wide Range of Complex Diseases of Middle and Old Age
- (2015) Cathie Sudlow et al. PLOS MEDICINE
- PRIMUS: Rapid Reconstruction of Pedigrees from Genome-wide Estimates of Identity by Descent
- (2014) Jeffrey Staples et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Piezo1 integration of vascular architecture with physiological force
- (2014) Jing Li et al. NATURE
- Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction
- (2014) Ron Do et al. NATURE
- Breast-Cancer Risk in Families with Mutations in PALB2
- (2014) Antonis C. Antoniou et al. NEW ENGLAND JOURNAL OF MEDICINE
- ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing
- (2013) Robert C. Green et al. GENETICS IN MEDICINE
- The keratoconus corneal proteome: Loss of epithelial integrity and stromal degeneration
- (2013) Raghothama Chaerkady et al. Journal of Proteomics
- Cancer Risks forMLH1andMSH2Mutation Carriers
- (2012) James G. Dowty et al. HUMAN MUTATION
- Cohort Profile: The HUNT Study, Norway
- (2012) S. Krokstad et al. INTERNATIONAL JOURNAL OF EPIDEMIOLOGY
- Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture
- (2012) Karol Estrada et al. NATURE GENETICS
- Truncations of Titin Causing Dilated Cardiomyopathy
- (2012) Daniel S. Herman et al. NEW ENGLAND JOURNAL OF MEDICINE
- A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes
- (2012) D. G. MacArthur et al. SCIENCE
- Human Genome Sequencing in Health and Disease
- (2011) Claudia Gonzaga-Jauregui et al. Annual Review of Medicine
- The genetics of normal platelet reactivity
- (2010) T. J. Kunicki et al. BLOOD
- MaCH: using sequence and genotype data to estimate haplotypes and unobserved genotypes
- (2010) Yun Li et al. GENETIC EPIDEMIOLOGY
- Mutations of ASXL1 gene in myeloproliferative neoplasms
- (2009) N Carbuccia et al. LEUKEMIA
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