Evolutionary constraint facilitates interpretation of genetic variation in resequenced human genomes - Wikidata - wikimedia - TriplyDB

Evolutionary constraint facilitates interpretation of genetic variation in resequenced human genomes

Evolutionary constraint facilitates interpretation of genetic variation in resequenced human genomes

http://www.wikidata.org/entity/Q33736558

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Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F IGF1R variants associated with isolated single suture craniosynostosis Evidence for involvement of GNB1L in autism.Population genetic inference from personal genome data: impact of ancestry and admixture on human genomic variation.Using genomics to characterize evolutionary potential for conservation of wild populations Heterogeneity in the entire genome for three genotypes of peach [Prunus persica (L.) Batsch] as distinguished from sequence analysis of genomic variants Genome-wide analysis of functional and evolutionary features of tele-enhancers.Predicting functionally important SNP classes based on negative selection.Evolution of microRNA in primates.A community-based resource for automatic exome variant-calling and annotation in Mendelian disorders.Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data.Evolutionary relationships and diversification of barhl genes within retinal cell lineages.MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples.Context-dependent robustness to 5' splice site polymorphisms in human populations.Improving the assessment of the outcome of nonsynonymous SNVs with a consensus deleteriousness score, Condel.A genome-wide comparison of the functional properties of rare and common genetic variants in humans Selective constraint, background selection, and mutation accumulation variability within and between human populations.Update 2011: clinical and genetic issues in familial dilated cardiomyopathy.The role of the interactome in the maintenance of deleterious variability in human populations Faster than neutral evolution of constrained sequences: the complex interplay of mutational biases and weak selection.Whole-exome sequencing reveals a rapid change in the frequency of rare functional variants in a founding population of humans.Single-nucleotide evolutionary constraint scores highlight disease-causing mutations.Multi-species, multi-transcription factor binding highlights conserved control of tissue-specific biological pathways.Dissecting the genetics of complex inheritance: linkage disequilibrium mapping provides insight into Crohn disease Disease-associated variants in different categories of disease located in distinct regulatory elements Quadruplex-single nucleotide polymorphisms (Quad-SNP) influence gene expression difference among individuals.The QTN program and the alleles that matter for evolution: all that's gold does not glitter Human genomic disease variants: a neutral evolutionary explanation.Mutation Rate Variation is a Primary Determinant of the Distribution of Allele Frequencies in Humans.Functional and Structural Consequence of Rare Exonic Single Nucleotide Polymorphisms: One Story, Two Tales.Deleterious- and disease-allele prevalence in healthy individuals: insights from current predictions, mutation databases, and population-scale resequencing.Distance from sub-Saharan Africa predicts mutational load in diverse human genomes.Reference-assisted chromosome assembly Whole-genome sequencing identifies a recurrent functional synonymous mutation in melanoma Estimating the mutation load in human genomes Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.The impact of cis-acting polymorphisms on the human phenotype.Comparative population genomics: power and principles for the inference of functionality.Determining causality and consequence of expression quantitative trait loci.Evaluation of artificial selection in Standard Poodles using whole-genome sequencing.

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Evolutionary constraint facilitates interpretation of genetic variation in resequenced human genomes

http://www.wikidata.org/entity/Q33736558

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2010 nî lūn-bûn

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2010 թուականի Յունուարին հրատարակուած գիտական յօդուած

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2010 թվականի հունվարին հրատարակված գիտական հոդված

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2010年の論文

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Genome Research

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Arend Sidow

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Eidelyn Gonzales

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Eugene Davydov

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Gregory M Cooper

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Jeremy Schmutz

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Kalpana Karra

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Ming Tsai

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Richard M Myers

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Serafim Batzoglou

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P2860

Initial sequencing and analysis of the human genome

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

The diploid genome sequence of an individual human

Highly conserved non-coding sequences are associated with vertebrate development

Genetic variation in an individual human exome

Population history and natural selection shape patterns of genetic variation in 132 genes

A functional polymorphism in THBS2 that affects alternative splicing and MMP binding is associated with lumbar-disc herniation

The diploid genome sequence of an Asian individual

The Sequence of the Human Genome

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

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301-310

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10.1101/GR.102210.109

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3

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20

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41000612

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20067941

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2840986

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