Rare variant association studies: considerations, challenges and opportunities. - Wikidata - awgldk - TriplyDB

Rare variant association studies: considerations, challenges and opportunities.

Rare variant association studies: considerations, challenges and opportunities.

http://www.wikidata.org/entity/Q35110309

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Structural characterization of single nucleotide variants at ligand binding sites and enzyme active sites of human proteins A new strategy for enhancing imputation quality of rare variants from next-generation sequencing data via combining SNP and exome chip data.Clinical Applicability of Whole-Exome Sequencing Exemplified by a Study in Young Adults with the Advanced Cryptogenic Cholestatic Liver Diseases.Genome-wide approach identifies a novel gene-maternal pre-pregnancy BMI interaction on preterm birth.HPMV: human protein mutation viewer - relating sequence mutations to protein sequence architecture and function changes.PredictSNP2: A Unified Platform for Accurately Evaluating SNP Effects by Exploiting the Different Characteristics of Variants in Distinct Genomic Regions.A Data Fusion Approach to Enhance Association Study in Epilepsy.A new conceptual framework for investigating complex genetic disease.Missing heritability of complex diseases: Enlightenment by genetic variants from intermediate phenotypes De novo and rare mutations in the HSPA1L heat shock gene associated with inflammatory bowel disease.GenePANDA-a novel network-based gene prioritizing tool for complex diseases Whole-genome sequencing approaches for conservation biology: advantages, limitations, and practical recommendations.DoEstRare: A statistical test to identify local enrichments in rare genomic variants associated with disease.Alcohol Metabolism and Oesophageal Cancer: A Systematic Review of the Evidence.Discovery of rare variants for complex phenotypes.Resolving the etiology of atopic disorders by using genetic analysis of racial ancestry.A Zoom-Focus algorithm (ZFA) to locate the optimal testing region for rare variant association tests.Challenges and progress in interpretation of non-coding genetic variants associated with human disease.An exome-wide analysis of low frequency and rare variants in relation to risk of breast cancer in African American Women: the AMBER Consortium.Distribution of single-nucleotide variants on protein-protein interaction sites and its relationship with minor allele frequency.A rare missense variant in RCL1 segregates with depression in extended families.The effect of phenotypic outliers and non-normality on rare-variant association testing.Deep whole-genome sequencing of 90 Han Chinese genomes.MAP3K1 May be a Promising Susceptibility Gene for Type 2 Diabetes Mellitus in an Iranian Population.The Empirical Distribution of Singletons for Geographic Samples of DNA Sequences.Finding the Sources of Missing Heritability within Rare Variants Through Simulation.The Genetics of Endophenotypes of Neurofunction to Understand Schizophrenia (GENUS) consortium: A collaborative cognitive and neuroimaging genetics project.A non-threshold region-specific method for detecting rare variants in complex diseases.Genetic architecture of wild soybean (Glycine soja) response to soybean cyst nematode (Heterodera glycines).Exome-wide rare variant analyses of two bone mineral density phenotypes: the challenges of analyzing rare genetic variation.Geographic distribution of rare variants associated with age-related macular degeneration.Regulation of plasma von Willebrand factor.The African Descent and Glaucoma Evaluation Study (ADAGES) III: Contribution of Genotype to Glaucoma Phenotype in African Americans: Study Design and Baseline Data.Low-frequency and rare variants may contribute to elucidate the genetics of major depressive disorder.Settling the score: variant prioritization and Mendelian disease.Prostate Cancer Genomics: Recent Advances and the Prevailing Underrepresentation from Racial and Ethnic Minorities.A Genome-Wide Linkage Study for Chronic Obstructive Pulmonary Disease in a Dutch Genetic Isolate Identifies Novel Rare Candidate Variants.Whole-exome sequencing in 20,197 persons for rare variants in Alzheimer's disease.Exome sequencing of healthy phenotypic extremes links TROVE2 to emotional memory and PTSD Whole-Genome Linkage Scan Combined With Exome Sequencing Identifies Novel Candidate Genes for Carotid Intima-Media Thickness

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Rare variant association studies: considerations, challenges and opportunities.

http://www.wikidata.org/entity/Q35110309

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2015 nî lūn-bûn

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2015 թուականի Փետրուարին հրատարակուած գիտական յօդուած

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2015 թվականի փետրվարին հրատարակված գիտական հոդված

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2015年の論文

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2015年学术文章

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2015年学术文章

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2015年学术文章

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2015年学术文章

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2015年学术文章

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2015年學術文章

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Rare variant association studies: considerations, challenges and opportunities.

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Guidelines for genome-wide association studies

Fine mapping of five loci associated with low-density lipoprotein cholesterol detects variants that double the explained heritability

An integrated encyclopedia of DNA elements in the human genome

An integrated map of genetic variation from 1,092 human genomes

Finding the missing heritability of complex diseases

A mutation in APP protects against Alzheimer’s disease and age-related cognitive decline

Multiple Rare Alleles Contribute to Low Plasma Levels of HDL Cholesterol

mtDna and the islands of the North Atlantic: estimating the proportions of Norse and Gaelic ancestry.

Estimating Scandinavian and Gaelic ancestry in the male settlers of Iceland.

Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease

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