Identification of genomic deletions causing inherited retinal degenerations by coverage analysis of whole exome sequencing data.

Identification of genomic deletions causing inherited retinal degenerations by coverage analysis of whole exome sequencing data.

Item
http://www.wikidata.org/entity/Q31098928
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.Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases.Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations.Toward an elucidation of the molecular genetics of inherited retinal degenerations.Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies.Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.A new approach based on targeted pooled DNA sequencing identifies novel mutations in patients with Inherited Retinal Dystrophies
P2860

Identification of genomic deletions causing inherited retinal degenerations by coverage analysis of whole exome sequencing data.

Item
http://www.wikidata.org/entity/Q31098928
description
2016 nî lūn-bûn
@nan
2016 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2016 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2016年の論文
@ja
2016年論文
@yue
2016年論文
@zh-hant
2016年論文
@zh-hk
2016年論文
@zh-mo
2016年論文
@zh-tw
2016年论文
@wuu
name
Identification of genomic dele ...... f whole exome sequencing data.
@ast
Identification of genomic dele ...... f whole exome sequencing data.
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type
label
Identification of genomic dele ...... f whole exome sequencing data.
@ast
Identification of genomic dele ...... f whole exome sequencing data.
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prefLabel
Identification of genomic dele ...... f whole exome sequencing data.
@ast
Identification of genomic dele ...... f whole exome sequencing data.
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Identification of genomic dele ...... f whole exome sequencing data.
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P2860
P304
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10.1136/JMEDGENET-2016-103825
P407
P433
P478
P577
P698