Towards clinical molecular diagnosis of inherited cardiac conditions: a comparison of bench-top genome DNA sequencers
about
Navigating the rapids: the development of regulated next-generation sequencing-based clinical trial assays and companion diagnosticsValidation of multiple single nucleotide variation calls by additional exome analysis with a semiconductor sequencer to supplement data of whole-genome sequencing of a human population.Direct observation of genomic heterogeneity through local haplotyping analysis.Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement.A Protocol for mtGenome Analysis on Large Sample Numbers.Evaluation and optimisation of indel detection workflows for ion torrent sequencing of the BRCA1 and BRCA2 genesApplication of Next Generation Sequencing for personalized medicine for sudden cardiac death.Maturity onset diabetes of the young in India - a distinctive mutation pattern identified through targeted next-generation sequencing.Applicability of next generation sequencing technology in microsatellite instability testingEvaluation of two highly-multiplexed custom panels for massively parallel semiconductor sequencing on paraffin DNABioinformatic Challenges in Clinical Diagnostic Application of Targeted Next Generation Sequencing: Experience from PheochromocytomaBRCA1-2 diagnostic workflow from next-generation sequencing technologies to variant identification and final report.Contamination-controlled high-throughput whole genome sequencing for influenza A viruses using the MiSeq sequencer.Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition GenesIdentification of novel mutations including a double mutation in patients with inherited cardiomyopathy by a targeted sequencing approach using the Ion Torrent PGM system.A Method for Amplicon Deep Sequencing of Drug Resistance Genes in Plasmodium falciparum Clinical Isolates from India.Technological advances in precision medicine and drug development.Detection of mutations in KLHL3 and CUL3 in families with FHHt (familial hyperkalaemic hypertension or Gordon's syndrome).Advances in clinical next-generation sequencing: target enrichment and sequencing technologies.Cell-free DNA and next-generation sequencing in the service of personalized medicine for lung cancer.Cost-efficient HIV-1 drug resistance surveillance using multiplexed high-throughput amplicon sequencing: implications for use in low- and middle-income countries.A comparison of sequencing platforms and bioinformatics pipelines for compositional analysis of the gut microbiomeIon Torrent sequencing as a tool for mutation discovery in the flax (Linum usitatissimum L.) genome.Targeted next-generation sequencing panels for monogenetic disorders in clinical diagnostics: the opportunities and challenges.Non optical semi-conductor next generation sequencing of the main cardiac QT-interval duration genes in pooled DNA samples.Bradycardia is a Specific Phenotype of Catecholaminergic Polymorphic Ventricular Tachycardia Induced by RYR2 Mutations.A labor- and cost-effective non-optical semiconductor (Ion Torrent) next-generation sequencing of the SLC12A3 and CLCNKA/B genes in Gitelman's syndrome patients.Molecular analysis of inherited cardiomyopathy using next generation semiconductor sequencing technologies
P2860
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P2860
Towards clinical molecular diagnosis of inherited cardiac conditions: a comparison of bench-top genome DNA sequencers
description
2013 nî lūn-bûn
@nan
2013 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
name
Towards clinical molecular dia ...... ench-top genome DNA sequencers
@ast
Towards clinical molecular dia ...... ench-top genome DNA sequencers
@en
Towards clinical molecular dia ...... ench-top genome DNA sequencers
@nl
type
label
Towards clinical molecular dia ...... ench-top genome DNA sequencers
@ast
Towards clinical molecular dia ...... ench-top genome DNA sequencers
@en
Towards clinical molecular dia ...... ench-top genome DNA sequencers
@nl
prefLabel
Towards clinical molecular dia ...... ench-top genome DNA sequencers
@ast
Towards clinical molecular dia ...... ench-top genome DNA sequencers
@en
Towards clinical molecular dia ...... ench-top genome DNA sequencers
@nl
P2093
P2860
P50
P1433
P1476
Towards clinical molecular dia ...... ench-top genome DNA sequencers
@en
P2093
Andrew J Buckton
Iveta Valaskova
Laurence Game
Manu Gupta
Samuel L Wilkinson
Shibu John
Stuart A Cook
Tomas Novotny
Xinzhong Li
P2860
P304
P356
10.1371/JOURNAL.PONE.0067744
P407
P577
2013-07-04T00:00:00Z