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Human genomics. Effect of predicted protein-truncating genetic variants on the human transcriptome

Human genomics. Effect of predicted protein-truncating genetic variants on the human transcriptome

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Incredible RNA: Dual Functions of Coding and Noncoding Human Knockout Carriers: Dead, Diseased, Healthy, or Improved?Genetic disruption of voltage-gated calcium channels in psychiatric and neurological disorders Report on the 3rd Ottawa International Conference on Neuromuscular Biology, Disease and Therapy - September 24-26, 2015, Ottawa, Canada.A novel KCNQ4 mutation and a private IMMP2L-DOCK4 duplication segregating with nonsyndromic hearing loss in a Brazilian family regSNPs-splicing: a tool for prioritizing synonymous single-nucleotide substitution.Using large sequencing data sets to refine intragenic disease regions and prioritize clinical variant interpretation.Genome, transcriptome and proteome: the rise of omics data and their integration in biomedical sciences.Allelic imbalance of somatic mutations in cancer genomes and transcriptomes.Non-Coding Loss-of-Function Variation in Human Genomes.Health and population effects of rare gene knockouts in adult humans with related parents Human genomics. The Genotype-Tissue Expression (GTEx) pilot analysis: multitissue gene regulation in humans.Translating RNA sequencing into clinical diagnostics: opportunities and challenges.Tools and best practices for data processing in allelic expression analysis.The landscape of genomic imprinting across diverse adult human tissues The Characteristics of Heterozygous Protein Truncating Variants in the Human Genome.A null mutation in ANGPTL8 does not associate with either plasma glucose or type 2 diabetes in humans Genetic Variants in the Bone Morphogenic Protein Gene Family Modify the Association between Residential Exposure to Traffic and Peripheral Arterial Disease.SNPsplit: Allele-specific splitting of alignments between genomes with known SNP genotypes.Functional genomics bridges the gap between quantitative genetics and molecular biology.Analysis of Transcriptional Variability in a Large Human iPSC Library Reveals Genetic and Non-genetic Determinants of Heterogeneity.The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies.A Novel Approach to High-Quality Postmortem Tissue Procurement: The GTEx Project.Systematic identification of genes with a cancer-testis expression pattern in 19 cancer types.Pseudo-Reference-Based Assembly of Vertebrate Transcriptomes Meta-analysis of gene-environment-wide association scans accounting for education level identifies additional loci for refractive error.Gene Variant Databases and Sharing: Creating a Global Genomic Variant Database for Personalized Medicine.A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis.Identification of Siglec-1 null individuals infected with HIV-1.Proteogenomics: Integrating Next-Generation Sequencing and Mass Spectrometry to Characterize Human Proteomic Variation Sequence variation between 462 human individuals fine-tunes functional sites of RNA processing Rare variant phasing and haplotypic expression from RNA sequencing with phASER Eight Mutations of Three Genes (EDA, EDAR, and WNT10A) Identified in Seven Hypohidrotic Ectodermal Dysplasia Patients.Translational plasticity facilitates the accumulation of nonsense genetic variants in the human population.Comprehensive Analysis of Tissue-wide Gene Expression and Phenotype Data Reveals Tissues Affected in Rare Genetic Disorders.Shared genetic variants for polypoidal choroidal vasculopathy and typical neovascular age-related macular degeneration in East Asians.Leveraging splice-affecting variant predictors and a minigene validation system to identify Mendelian disease-causing variants among exon-captured variants of uncertain significance.Discovery of rare variants for complex phenotypes.The roles of RNA processing in translating genotype to phenotype The rules and impact of nonsense-mediated mRNA decay in human cancers.

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Human genomics. Effect of predicted protein-truncating genetic variants on the human transcriptome

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2015 nî lūn-bûn

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David S DeLuca

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Donald F Conrad

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Emily K Tsang

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Emmanouil T Dermitzakis

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Eric Banks

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Fengmei Zhao

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GTEx Consortium

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Geuvadis Consortium

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Jared Nedzel

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Genome-wide association between branch point properties and alternative splicing

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

Fast and accurate short read alignment with Burrows-Wheeler transform

TopHat: discovering splice junctions with RNA-Seq

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

The GEM mapper: fast, accurate and versatile alignment by filtration

The Genotype-Tissue Expression (GTEx) project

Origins and functional impact of copy number variation in the human genome

A framework for variation discovery and genotyping using next-generation DNA sequencing data

The variant call format and VCFtools

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Carlos D. Bustamante

Roderic Guigó i Serra

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