A genome-wide comparison of the functional properties of rare and common genetic variants in humans - Wikidata - wikimedia - TriplyDB

A genome-wide comparison of the functional properties of rare and common genetic variants in humans

A genome-wide comparison of the functional properties of rare and common genetic variants in humans

http://www.wikidata.org/entity/Q34768431

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Annotating individual human genomes Understanding rare and common diseases in the context of human evolution Characterizing the genetic basis of transcriptome diversity through RNA-sequencing of 922 individuals Progress in methods for rare variant association Bioinformatics for personal genome interpretation Genetic dissection of a model complex trait using the Drosophila Synthetic Population Resource.Sequencing studies in human genetics: design and interpretation.VPA: an R tool for analyzing sequencing variants with user-specified frequency pattern.Phylomedicine: an evolutionary telescope to explore and diagnose the universe of disease mutations.Evidence of inbreeding depression on human height.Biochemical analysis of six genetic variants of error-prone human DNA polymerase ι involved in translesion DNA synthesis.Multiple regression methods show great potential for rare variant association tests.Large genomic region free of GWAS-based common variants contains fertility-related genes Leveraging prior information to detect causal variants via multi-variant regression.A genome-wide association study of variants associated with acquisition of Staphylococcus aureus bacteremia in a healthcare setting.Loss-of-function variants in schizophrenia risk and SETD1A as a candidate susceptibility gene.Predicting genome-wide DNA methylation using methylation marks, genomic position, and DNA regulatory elements.Rare and common variants: twenty arguments.Rare versus common variants in pharmacogenetics: SLCO1B1 variation and methotrexate disposition Copy number variation and warfarin dosing: evaluation of CYP2C9, VKORC1, CYP4F2, GGCX and CALU Mapping of the UGT1A locus identifies an uncommon coding variant that affects mRNA expression and protects from bladder cancer.Study of a US cohort supports the role of ZNF644 and high-grade myopia susceptibility.DNA sequencing: clinical applications of new DNA sequencing technologies.Human genomic disease variants: a neutral evolutionary explanation.Functional and Structural Consequence of Rare Exonic Single Nucleotide Polymorphisms: One Story, Two Tales.Intricacies in arrangement of SNP haplotypes suggest "Great Admixture" that created modern humans.Association mapping reveals the role of purifying selection in the maintenance of genomic variation in gene expression.Prioritizing genetic variants for causality on the basis of preferential linkage disequilibrium.Huvariome: a web server resource of whole genome next-generation sequencing allelic frequencies to aid in pathological candidate gene selection.Genetic variations and associated pathophysiology in the management of epilepsy.Functional evaluation of a novel tooth agenesis-associated bone morphogenetic protein 4 prodomain mutation Mosaic mutations in early-onset genetic diseases.Role of rare variants in undetermined multiple adenomatous polyposis and early-onset colorectal cancer.The OncoArray Consortium: A Network for Understanding the Genetic Architecture of Common Cancers.Next generation sequencing and rare genetic variants: from human population studies to medical genetics.Evaluating empirical bounds on complex disease genetic architecture.Quantifying harmful mutations in human populations.Transcriptome-wide analysis of UTRs in non-small cell lung cancer reveals cancer-related genes with SNV-induced changes on RNA secondary structure and miRNA target sites.What is complex about complex disorders?Six Germline Genetic Variations Impair the Translesion Synthesis Activity of Human DNA Polymerase κ.

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A genome-wide comparison of the functional properties of rare and common genetic variants in humans

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American Journal of Human Genetics

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Dongliang Ge

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Erin L Heinzen

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Jessica M Maia

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P2860

Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project

The distribution of fitness effects of new deleterious amino acid mutations in humans

Ultraconserved Elements in the Human Genome

Finding the missing heritability of complex diseases

Are rare variants responsible for susceptibility to complex diseases?

Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes.

Targeted capture and massively parallel sequencing of 12 human exomes

A map of human genome variation from population-scale sequencing

Ultraconservation identifies a small subset of extremely constrained developmental enhancers

Fast and accurate short read alignment with Burrows-Wheeler transform

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