Whole-exome sequencing as a diagnostic tool: current challenges and future opportunities.
about
Whole-exome sequencing identifies a novel de novo mutation in DYNC1H1 in epileptic encephalopathiesConcordance between whole-exome sequencing and clinical Sanger sequencing: implications for patient care.Making genomic medicine evidence-based and patient-centered: a structured review and landscape analysis of comparative effectiveness researchIntersociety policy statement on the use of whole-exome sequencing in the critically ill newborn infant.Development and validation of a targeted next generation DNA sequencing panel outperforming whole exome sequencing for the identification of clinically relevant genetic variants.Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion.A De Novo FOXP1 Truncating Mutation in a Patient Originally Diagnosed as C Syndrome.Analysis of Downs syndrome with molecular techniques for future diagnoses.Novel putative drivers revealed by targeted exome sequencing of advanced solid tumors.Whole-exome sequencing improves genetic testing accuracy in pulmonary artery hypertension.Whole exome sequencing in the rat.
P2860
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P2860
Whole-exome sequencing as a diagnostic tool: current challenges and future opportunities.
description
2015 nî lūn-bûn
@nan
2015年の論文
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2015年論文
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2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
2015年论文
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2015年论文
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name
Whole-exome sequencing as a diagnostic tool: current challenges and future opportunities.
@en
type
label
Whole-exome sequencing as a diagnostic tool: current challenges and future opportunities.
@en
prefLabel
Whole-exome sequencing as a diagnostic tool: current challenges and future opportunities.
@en
P2093
P2860
P1476
Whole-exome sequencing as a diagnostic tool: current challenges and future opportunities.
@en
P2093
Jacek Majewski
Javad Nadaf
Martine Tetreault
Najmeh Alirezaie
P2860
P304
P356
10.1586/14737159.2015.1039516
P50
P577
2015-05-09T00:00:00Z