An integrated map of structural variation in 2,504 human genomes. - Wikidata - thesis-toulmin - TriplyDB

An integrated map of structural variation in 2,504 human genomes.

An integrated map of structural variation in 2,504 human genomes.

http://www.wikidata.org/entity/Q34496621

about

A global reference for human genetic variation Next generation sequencing technology and genomewide data analysis: Perspectives for retinal research Genome Data Exploration Using Correspondence Analysis Mechanisms underlying structural variant formation in genomic disorders Transposable element detection from whole genome sequence data Oxford Nanopore MinION Sequencing and Genome Assembly Association between -308G/A TNFA Polymorphism and Susceptibility to Type 2 Diabetes Mellitus: A Systematic Review A genome-wide approach for detecting novel insertion-deletion variants of mid-range size Epigenetic DNA Methylation Profiling with MSRE: A Quantitative NGS Approach Using a Parkinson's Disease Test Case The population genomics of rhesus macaques (Macaca mulatta) based on whole-genome sequences The Hypertension Pandemic: An Evolutionary Perspective.Natural Selection in the Great Apes Microbial Disease Spectrum Linked to a Novel IL-12Rβ1 N-Terminal Signal Peptide Stop-Gain Homozygous Mutation with Paradoxical Receptor Cell-Surface Expression Elucidation of quantitative structural diversity of remarkable rearrangement regions, shufflons, in IncI2 plasmids Empirical estimation of genome-wide significance thresholds based on the 1000 Genomes Project data set Findings made in gene panel to whole genome sequencing: data, knowledge, ethics - and consequences?Use of big data in drug development for precision medicine.Analysis of exome sequencing data sets reveals structural variation in the coding region of ABO in individuals of African ancestry.A reference data set of 5.4 million phased human variants validated by genetic inheritance from sequencing a three-generation 17-member pedigree.Inference of Candidate Germline Mutator Loci in Humans from Genome-Wide Haplotype Data.The Role of Somatic L1 Retrotransposition in Human Cancers.Short template switch events explain mutation clusters in the human genome.Human population-specific gene expression and transcriptional network modification with polymorphic transposable elements.LINE Insertion Polymorphisms are Abundant but at Low Frequencies across Populations of Anolis carolinensis.Comprehensive performance comparison of high-resolution array platforms for genome-wide Copy Number Variation (CNV) analysis in humans.Insertion and deletion polymorphisms of the ancient AluS family in the human genome.DangerTrack: A scoring system to detect difficult-to-assess regions Functional Analysis of the rs774872314, rs116171003, rs200231898 and rs201107751 Polymorphisms in the Human RORγT Gene Promoter Region.SVScore: an impact prediction tool for structural variation.Genome graphs and the evolution of genome inference DNA Sequence Analysis in Clinical Medicine, Proceeding Cautiously.Human Y chromosome copy number variation in the next generation sequencing era and beyond.Reading LINEs within the cocaine addicted brain.Applications of the 1000 Genomes Project resources Genome annotation for clinical genomic diagnostics: strengths and weaknesses Obesity, metabolic factors and risk of different histological types of lung cancer: A Mendelian randomization study Whole-Genome Sequence of the Metastatic PC3 and LNCaP Human Prostate Cancer Cell Lines.Linked read sequencing resolves complex genomic rearrangements in gastric cancer metastases.Regulatory activities of transposable elements: from conflicts to benefits.CLOVE: classification of genomic fusions into structural variation events

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An integrated map of structural variation in 2,504 human genomes.

http://www.wikidata.org/entity/Q34496621

description

2015 nî lūn-bûn

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2015 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած

@hyw

2015 թվականի սեպտեմբերին հրատարակված գիտական հոդված

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2015年の論文

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2015年論文

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2015年論文

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2015年論文

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2015年論文

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2015年論文

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2015年论文

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name

An integrated map of structural variation in 2,504 human genomes.

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An integrated map of structural variation in 2,504 human genomes.

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An integrated map of structural variation in 2,504 human genomes.

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type

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An integrated map of structural variation in 2,504 human genomes.

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An integrated map of structural variation in 2,504 human genomes.

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An integrated map of structural variation in 2,504 human genomes.

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An integrated map of structural variation in 2,504 human genomes.

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An integrated map of structural variation in 2,504 human genomes.

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An integrated map of structural variation in 2,504 human genomes.

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An integrated map of structural variation in 2,504 human genomes.

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Adam Auton

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Adrian M Stütz

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Ali Bashir

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Amina Noor

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Andreas Schlattl

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Andreas Untergasser

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Androniki Menelaou

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Bradley J Nelson

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Charles Lee

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Chengsheng Zhang

http://www.w3.org/2001/XMLSchema#string

P2860

Towards a comprehensive structural variation map of an individual human genome

Mechanisms of change in gene copy number

Resolving the complexity of the human genome using single-molecule sequencing

An integrated encyclopedia of DNA elements in the human genome

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

Diversity of human copy number variation and multicopy genes

Mapping copy number variation by population-scale genome sequencing

A map of human genome variation from population-scale sequencing

Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls

Paired-end mapping reveals extensive structural variation in the human genome

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10.1038/NATURE15394

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526

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1000 Genomes Project

Peter H Sudmant

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2015-09-01T00:00:00Z

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282534613

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