Integrative annotation of variants from 1092 humans: application to cancer genomics - Wikidata - wikimedia - TriplyDB

Integrative annotation of variants from 1092 humans: application to cancer genomics

Integrative annotation of variants from 1092 humans: application to cancer genomics

http://www.wikidata.org/entity/Q22065599

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Sequencing pools of individuals — mining genome-wide polymorphism data without big funding Recombination affects accumulation of damaging and disease-associated mutations in human populations Improved exome prioritization of disease genes through cross-species phenotype comparison Practical aspects of NGS-based pathways analysis for personalized cancer science and medicine Quantitative Trait Loci Identify Functional Noncoding Variation in Cancer The search for cis-regulatory driver mutations in cancer genomes Transcriptional enhancers: functional insights and role in human disease Developments in our understanding of the genetic basis of birth defects The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities Impact of allele-specific peptides in proteome quantification Transcriptional Dynamics at Brain Enhancers: from Functional Specialization to Neurodegeneration The genetic heterogeneity of colorectal cancer predisposition - guidelines for gene discovery Mechanisms of mutational robustness in transcriptional regulation ORegAnno 3.0: a community-driven resource for curated regulatory annotation Evolutionary constraint and disease associations of post-translational modification sites in human genomes The population genomics of rhesus macaques (Macaca mulatta) based on whole-genome sequences Individualized medicine from prewomb to tomb Cis-regulatory somatic mutations and gene-expression alteration in B-cell lymphomas.Intensification: A Resource for Amplifying Population-Genetic Signals with Protein Repeats.A statistical framework to predict functional non-coding regions in the human genome through integrated analysis of annotation data.Global inference of disease-causing single nucleotide variants from exome sequencing data Dark matter RNA illuminates the puzzle of genome-wide association studies.Whole-genome analysis of papillary kidney cancer finds significant noncoding alterations Ancient genes establish stress-induced mutation as a hallmark of cancer Laying a solid foundation for Manhattan--'setting the functional basis for the post-GWAS era'.Applications of the 1000 Genomes Project resources Comprehensive whole genome sequence analyses yields novel genetic and structural insights for Intellectual Disability.Genome annotation for clinical genomic diagnostics: strengths and weaknesses Prioritization of neurodevelopmental disease genes by discovery of new mutations.Analysis of stop-gain and frameshift variants in human innate immunity genes.Landscape of somatic mutations in 560 breast cancer whole-genome sequences.Expanding the computational toolbox for mining cancer genomes.Missing heritability of common diseases and treatments outside the protein-coding exome.Human genomic regions with exceptionally high levels of population differentiation identified from 911 whole-genome sequences.FunSeq2: a framework for prioritizing noncoding regulatory variants in cancer Walking the interactome for candidate prioritization in exome sequencing studies of Mendelian diseases.A method for calculating probabilities of fitness consequences for point mutations across the human genome Enhancer sequence variants and transcription-factor deregulation synergize to construct pathogenic regulatory circuits in B-cell lymphoma.SuRFing the genomics wave: an R package for prioritising SNPs by functionality OncoCis: annotation of cis-regulatory mutations in cancer.

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Integrative annotation of variants from 1092 humans: application to cancer genomics

http://www.wikidata.org/entity/Q22065599

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2013 nî lūn-bûn

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2013 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած

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2013 թվականի հոտեմբերին հրատարակված գիտական հոդված

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2013年の論文

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2013年論文

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2013年論文

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2013年論文

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2013年論文

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2013年论文

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name

Integrative annotation of variants from 1092 humans: application to cancer genomics

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Integrative annotation of variants from 1092 humans: application to cancer genomics

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Integrative annotation of variants from 1092 humans: application to cancer genomics

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Integrative annotation of variants from 1092 humans: application to cancer genomics

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Integrative annotation of variants from 1092 humans: application to cancer genomics

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Integrative annotation of variants from 1092 humans: application to cancer genomics

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Integrative annotation of variants from 1092 humans: application to cancer genomics

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Integrative annotation of variants from 1092 humans: application to cancer genomics

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Integrative annotation of variants from 1092 humans: application to cancer genomics

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Integrative annotation of variants from 1092 humans: application to cancer genomics

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Integrative annotation of variants from 1092 humans: application to cancer genomics

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Integrative annotation of variants from 1092 humans: application to cancer genomics

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Integrative annotation of variants from 1092 humans: application to cancer genomics

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