Identification of copy number variants from exome sequence data. - Wikidata - awgldk - TriplyDB

Identification of copy number variants from exome sequence data.

Identification of copy number variants from exome sequence data.

http://www.wikidata.org/entity/Q30841251

about

Detection of Genomic Structural Variants from Next-Generation Sequencing Data Unsolved challenges of clinical whole-exome sequencing: a systematic literature review of end-users' views Loss of B Cells in Patients with Heterozygous Mutations in IKAROS.Evaluation of somatic copy number estimation tools for whole-exome sequencing data.VisCap: inference and visualization of germ-line copy-number variants from targeted clinical sequencing data.cnvScan: a CNV screening and annotation tool to improve the clinical utility of computational CNV prediction from exome sequencing data arrEYE: a customized platform for high-resolution copy number analysis of coding and noncoding regions of known and candidate retinal dystrophy genes and retinal noncoding RNAs.The impact of DNA input amount and DNA source on the performance of whole-exome sequencing in cancer epidemiology A genome-wide copy number variant study of suicidal behavior.Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia.Whole-exome sequencing and digital PCR identified a novel compound heterozygous mutation in the NPHP1 gene in a case of Joubert syndrome and related disorders.Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing Amplicon-based semiconductor sequencing of human exomes: performance evaluation and optimization strategies A potential founder variant in CARMIL2/RLTPR in three Norwegian families with warts, molluscum contagiosum, and T-cell dysfunction.Upregulation of Glutaredoxin-1 Activates Microglia and Promotes Neurodegeneration: Implications for Parkinson's Disease Evaluation of three read-depth based CNV detection tools using whole-exome sequencing data Expanding Genetic and Functional Diagnoses of IGF1R Haploinsufficiencies.Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders.Whole-exome sequencing identifies an α-globin cluster triplication resulting in increased clinical severity of β-thalassemia.Detecting Copy Number Variation via Next Generation Technology

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P2860

Identification of copy number variants from exome sequence data.

http://www.wikidata.org/entity/Q30841251

description

2014 nî lūn-bûn

@nan

2014 թուականի Օգոստոսին հրատարակուած գիտական յօդուած

@hyw

2014 թվականի օգոստոսին հրատարակված գիտական հոդված

@hy

2014年の論文

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2014年論文

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2014年論文

@zh-hant

2014年論文

@zh-hk

2014年論文

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2014年論文

@zh-tw

2014年论文

@wuu

name

Identification of copy number variants from exome sequence data.

@ast

Identification of copy number variants from exome sequence data.

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type

label

Identification of copy number variants from exome sequence data.

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Identification of copy number variants from exome sequence data.

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prefLabel

Identification of copy number variants from exome sequence data.

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Identification of copy number variants from exome sequence data.

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1471-2164-15-661

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Identification of copy number variants from exome sequence data.

@en

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Asbjørg Stray-Pedersen

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

Barbro Stadheim

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Bjørn Evert Kristiansen

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Geir E Tjønnfjord

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Hanne Sørmo Sorte

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Olaug Kristin Rødningen

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Pubudu Saneth Samarakoon

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Robert Lyle

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Tove Skodje

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Ying Sheng

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P2860

GENCODE: the reference human genome annotation for The ENCODE Project

The 1000 Genomes Project: data management and community access

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

Exome sequencing as a tool for Mendelian disease gene discovery

Copy number variation detection and genotyping from exome sequence data.

A robust model for read count data in exome sequencing experiments and implications for copy number variant calling

Modeling read counts for CNV detection in exome sequencing data.

A faster circular binary segmentation algorithm for the analysis of array CGH data.

Resolving the resolution of array CGH.

CONTRA: copy number analysis for targeted resequencing.

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1471-2164-15-661

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661

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scholarly article

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10.1186/1471-2164-15-661

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15

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2014-08-07T00:00:00Z

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