Mapping copy number variation by population-scale genome sequencing - Wikidata - awgldk - TriplyDB

Mapping copy number variation by population-scale genome sequencing

Mapping copy number variation by population-scale genome sequencing

http://www.wikidata.org/entity/Q24615307

about

GROM-RD: resolving genomic biases to improve read depth detection of copy number variants COPS: a sensitive and accurate tool for detecting somatic Copy Number Alterations using short-read sequence data from paired samples Retrotransposition of gene transcripts leads to structural variation in mammalian genomes Human genetics and genomics a decade after the release of the draft sequence of the human genome Evolutionary dynamics of copy number variation in pig genomes in the context of adaptation and domestication Computational tools for copy number variation (CNV) detection using next-generation sequencing data: features and perspectives Comparison of next-generation sequencing systems LUMPY: a probabilistic framework for structural variant discovery.Integrative annotation of variants from 1092 humans: application to cancer genomics Resolving the complexity of the human genome using single-molecule sequencing An integrated map of genetic variation from 1,092 human genomes Genetic studies of body mass index yield new insights for obesity biology inGAP-sv: a novel scheme to identify and visualize structural variation from paired end mapping data Extrachromosomal microDNAs and chromosomal microdeletions in normal tissues Using ERDS to infer copy-number variants in high-coverage genomes DELLY: structural variant discovery by integrated paired-end and split-read analysis forestSV: structural variant discovery through statistical learning DBTSS: DataBase of Transcriptional Start Sites progress report in 2012 Characterization of complex chromosomal rearrangements by targeted capture and next-generation sequencing Identifying fusion transcripts using next generation sequencing Challenges, Solutions, and Quality Metrics of Personal Genome Assembly in Advancing Precision Medicine Overview of recurrent chromosomal losses in retinoblastoma detected by low coverage next generation sequencing Genetic Susceptibility to Rhodococcus equi Genetic variation and the de novo assembly of human genomes 46,XY disorders of sex development and congenital diaphragmatic hernia: a case with dysmorphic facies, truncus arteriosus, bifid thymus, gut malrotation, rhizomelia, and adactyly Clinical impact of copy number variation analysis using high-resolution microarray technologies: advantages, limitations and concerns Structural variation discovery in the cancer genome using next generation sequencing: computational solutions and perspectives CNVs: harbingers of a rare variant revolution in psychiatric genetics Exome sequencing and complex disease: practical aspects of rare variant association studies The impact of human copy number variation on gene expression Copy number variation in the horse genome SInC: an accurate and fast error-model based simulator for SNPs, Indels and CNVs coupled with a read generator for short-read sequence data Structural variation mutagenesis of the human genome: Impact on disease and evolution.Oxford Nanopore MinION Sequencing and Genome Assembly Detection of Genomic Structural Variants from Next-Generation Sequencing Data Ensembl 2012 A copy number variation map of the human genome Exploring the role of copy number variants in human adaptation A mutation in TNNC1-encoded cardiac troponin C, TNNC1-A31S, predisposes to hypertrophic cardiomyopathy and ventricular fibrillation Detection of chromosomal alterations in the circulation of cancer patients with whole-genome sequencing

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Mapping copy number variation by population-scale genome sequencing

http://www.wikidata.org/entity/Q24615307

description

2011 nî lūn-bûn

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2011 թուականի Փետրուարին հրատարակուած գիտական յօդուած

@hyw

2011 թվականի փետրվարին հրատարակված գիտական հոդված

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2011年の論文

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2011年論文

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2011年論文

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2011年論文

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2011年論文

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2011年論文

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2011年论文

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name

Mapping copy number variation by population-scale genome sequencing

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Mapping copy number variation by population-scale genome sequencing

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Mapping copy number variation by population-scale genome sequencing

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type

label

Mapping copy number variation by population-scale genome sequencing

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Mapping copy number variation by population-scale genome sequencing

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Mapping copy number variation by population-scale genome sequencing

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prefLabel

Mapping copy number variation by population-scale genome sequencing

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Mapping copy number variation by population-scale genome sequencing

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Mapping copy number variation by population-scale genome sequencing

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Mapping copy number variation by population-scale genome sequencing

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Adrian M Stütz

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Alexander Eckehart Urban

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Asif Chinwalla

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Aylwyn Scally

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Chang-Yun Lin

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Charles Lee

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Chip Stewart

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Donald F Conrad

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Ekta Khurana

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Fabian Grubert

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P2860

The diploid genome sequence of an individual human

Towards a comprehensive structural variation map of an individual human genome

GENCODE: producing a reference annotation for ENCODE

Mechanisms of change in gene copy number

Fine-scale structural variation of the human genome

The sequence and de novo assembly of the giant panda genome

Mapping and sequencing of structural variation from eight human genomes

Functional impact of global rare copy number variation in autism spectrum disorders

Diversity of human copy number variation and multicopy genes

A map of human genome variation from population-scale sequencing

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10.1038/NATURE09708

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7332

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470

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Fereydoun Hormozdiari

Jeffrey M. Kidd

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2011-02-03T00:00:00Z

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1034732435

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21293372

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copy-number variation

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3077050

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