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The UK10K project identifies rare variants in health and disease

The UK10K project identifies rare variants in health and disease

http://www.wikidata.org/entity/Q34494047

about

Novel bioinformatic developments for exome sequencing A global reference for human genetic variation Inherited platelet disorders: toward DNA-based diagnosis Insights into metabolic disease from studying genetics in isolated populations: stories from Greece to Greenland Forward Individualized Medicine from Personal Genomes to Interactomes Deep sequencing of 10,000 human genomes Trends in Next-Generation Sequencing and a New Era for Whole Genome Sequencing Recent advances in the study of fine-scale population structure in humans The Importance of Patient-Specific Factors for Hepatic Drug Response and Toxicity Genome-Wide Meta-Analysis of Sciatica in Finnish Population Iron Age and Anglo-Saxon genomes from East England reveal British migration history Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel An organelle-specific protein landscape identifies novel diseases and molecular mechanisms Genetics and Genomics of Congenital Heart Disease.Body mass index: Has epidemiology started to break down causal contributions to health and disease?Developing and evaluating polygenic risk prediction models for stratified disease prevention.Guidelines for Large-Scale Sequence-Based Complex Trait Association Studies: Lessons Learned from the NHLBI Exome Sequencing Project.Comparison of HapMap and 1000 Genomes Reference Panels in a Large-Scale Genome-Wide Association Study.Mutations in tropomyosin 4 underlie a rare form of human macrothrombocytopenia.Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants.Practical Experience of the Application of a Weighted Burden Test to Whole Exome Sequence Data for Obesity and Schizophrenia Utilizing the Jaccard index to reveal population stratification in sequencing data: a simulation study and an application to the 1000 Genomes Project.Reference genotype and exome data from an Australian Aboriginal population for health-based research Rapid genotype refinement for whole-genome sequencing data using multi-variate normal distributions.Genome, transcriptome and proteome: the rise of omics data and their integration in biomedical sciences.Using reference-free compressed data structures to analyze sequencing reads from thousands of human genomes A fast and accurate method for detection of IBD shared haplotypes in genome-wide SNP data.Dawning of the age of genomics for platelet granule disorders: improving insight, diagnosis and management.Genetic Architecture of Familial Hypercholesterolaemia.Functional assessment of the NMDA receptor variant GluN2A R586K.The impact of rare and low-frequency genetic variants in common disease Semantic prioritization of novel causative genomic variants Screening for familial hypercholesterolaemia in childhood: Avon Longitudinal Study of Parents and Children (ALSPAC)Quantifying the mapping precision of genome-wide association studies using whole-genome sequencing data Rapid evolution of the human mutation spectrum Applications of the 1000 Genomes Project resources Comprehensive whole genome sequence analyses yields novel genetic and structural insights for Intellectual Disability.Whole genome sequencing and imputation in isolated populations identify genetic associations with medically-relevant complex traits Computing patient data in the cloud: practical and legal considerations for genetics and genomics research in Europe and internationally Korean Variant Archive (KOVA): a reference database of genetic variations in the Korean population.

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The UK10K project identifies rare variants in health and disease

http://www.wikidata.org/entity/Q34494047

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2015 nî lūn-bûn

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2015 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած

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2015 թվականի սեպտեմբերին հրատարակված գիտական հոդված

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2015年の論文

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2015年論文

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2015年論文

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2015年論文

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2015年論文

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2015年論文

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2015年论文

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The UK10K project identifies rare variants in health and disease

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The UK10K project identifies rare variants in health and disease

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The UK10K project identifies rare variants in health and disease

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The UK10K project identifies rare variants in health and disease

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The UK10K project identifies rare variants in health and disease

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The UK10K project identifies rare variants in health and disease

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The UK10K project identifies rare variants in health and disease

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The UK10K project identifies rare variants in health and disease

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Celia M T Greenwood

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ChangJiang Xu

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J Brent Richards

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James Floyd

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Jie Huang

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John R B Perry

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Josine L Min

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Klaudia Walter

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Lucy Crooks

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Matthew E Hurles

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P2860

Potential etiologic and functional implications of genome-wide association loci for human diseases and traits

An integrated encyclopedia of DNA elements in the human genome

Genome-wide association studies for complex traits: consensus, uncertainty and challenges

Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls

The NHGRI GWAS Catalog, a curated resource of SNP-trait associations

A map of human genome variation from population-scale sequencing

Biological, clinical and population relevance of 95 loci for blood lipids

The fine-scale genetic structure of the British population

Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel

Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity

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10.1038/NATURE14962

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Eleftheria Zeggini

Vincent Plagnol

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Daniel J. Lawson

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2015-09-14T00:00:00Z

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