Improved molecular diagnosis by the detection of exonic deletions with target gene capture and deep sequencing.
about
Targeted Next Generation Sequencing in Patients with Inborn Errors of MetabolismVisCap: inference and visualization of germ-line copy-number variants from targeted clinical sequencing data.Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort.Retinal Diseases Caused by Mutations in Genes Not Specifically Associated with the Clinical DiagnosisNext generation sequencing-based copy number analysis reveals low prevalence of deletions and duplications in 46 genes associated with genetic cardiomyopathies.Expanding genotype/phenotype of neuromuscular diseases by comprehensive target capture/NGS.The Changing Landscape of Molecular Diagnostic Testing: Implications for Academic Medical CentersNext-Generation Molecular Testing of Newborn Dried Blood Spots for Cystic FibrosisCapture-based high-coverage NGS: a powerful tool to uncover a wide spectrum of mutation types.Contribution of exome sequencing for genetic diagnostic in arrhythmogenic right ventricular cardiomyopathy/dysplasiaEvaluation of targeted exome sequencing for 28 protein-based blood group systems, including the homologous gene systems, for blood group genotyping.The next generation of population-based spinal muscular atrophy carrier screening: comprehensive pan-ethnic SMN1 copy-number and sequence variant analysis by massively parallel sequencing.Concurrent detection of targeted copy number variants and mutations using a myeloid malignancy next generation sequencing panel allows comprehensive genetic analysis using a single testing strategy.Detection of high frequency of mutations in a breast and/or ovarian cancer cohort: implications of embracing a multi-gene panel in molecular diagnosis in India.Targeted exome sequencing defines novel and rare variants in complex blood group serology cases for a red blood cell reference laboratory setting.Identification of KLHL40 mutations by targeted next-generation sequencing facilitated a prenatal diagnosis in a family with three consecutive affected fetuses with fetal akinesia deformation sequence.FBXL4 defects are common in patients with congenital lactic acidemia and encephalomyopathic mitochondrial DNA depletion syndrome.Ximmer: A system for improving accuracy and consistency of CNV calling from exome dataDetecting Copy Number Variation via Next Generation Technology
P2860
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P2860
Improved molecular diagnosis by the detection of exonic deletions with target gene capture and deep sequencing.
description
2014 nî lūn-bûn
@nan
2014 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
Improved molecular diagnosis b ...... e capture and deep sequencing.
@ast
Improved molecular diagnosis b ...... e capture and deep sequencing.
@en
type
label
Improved molecular diagnosis b ...... e capture and deep sequencing.
@ast
Improved molecular diagnosis b ...... e capture and deep sequencing.
@en
prefLabel
Improved molecular diagnosis b ...... e capture and deep sequencing.
@ast
Improved molecular diagnosis b ...... e capture and deep sequencing.
@en
P2093
P2860
P356
P1433
P1476
Improved molecular diagnosis b ...... e capture and deep sequencing.
@en
P2093
David Chen
Guo-Li Wang
Lee-Jun C Wong
Victor Wei Zhang
Yanming Feng
P2860
P2888
P304
P356
10.1038/GIM.2014.80
P407
P577
2014-07-17T00:00:00Z
P5875
P6179
1014005914