Validation of copy number variation analysis for next-generation sequencing diagnostics.
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Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases.Achromatopsia: clinical features, molecular genetics, animal models and therapeutic options.Neurodevelopmental Genetic Diseases Associated With Microdeletions and Microduplications of Chromosome 17p13.3.Ximmer: A system for improving accuracy and consistency of CNV calling from exome dataBAFopathies' DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin-Siris and Nicolaides-Baraitser syndromes
P2860
Validation of copy number variation analysis for next-generation sequencing diagnostics.
description
2017 nî lūn-bûn
@nan
2017年の論文
@ja
2017年論文
@yue
2017年論文
@zh-hant
2017年論文
@zh-hk
2017年論文
@zh-mo
2017年論文
@zh-tw
2017年论文
@wuu
2017年论文
@zh
2017年论文
@zh-cn
name
Validation of copy number variation analysis for next-generation sequencing diagnostics.
@en
type
label
Validation of copy number variation analysis for next-generation sequencing diagnostics.
@en
prefLabel
Validation of copy number variation analysis for next-generation sequencing diagnostics.
@en
P2093
P2860
P50
P356
P1476
Validation of copy number variation analysis for next-generation sequencing diagnostics.
@en
P2093
Andrew R Webster
Binay Panda
Bradley Horn
Christopher Campbell
Michel Michaelides
Panagiotis I Sergouniotis
Rachel L Taylor
Sanjeev Bhaskar
Simon C Ramsden
Stephanie Barton
P2860
P2888
P304
P356
10.1038/EJHG.2017.42
P577
2017-04-05T00:00:00Z