Assessment of clinical analytical sensitivity and specificity of next-generation sequencing for detection of simple and complex mutations
about
Navigating the rapids: the development of regulated next-generation sequencing-based clinical trial assays and companion diagnosticsAdvancing the Minimal Residual Disease Concept in Acute Myeloid LeukemiaMolecular diagnosis of autosomal dominant polycystic kidney disease using next-generation sequencing.GLM-based optimization of NGS data analysis: A case study of Roche 454, Ion Torrent PGM and Illumina NextSeq sequencing dataGood Laboratory Standards for Clinical Next-Generation Sequencing Cancer Panel Tests.Evaluation and optimisation of indel detection workflows for ion torrent sequencing of the BRCA1 and BRCA2 genesWhole-exome sequencing enables rapid determination of xeroderma pigmentosum molecular etiologyNext-generation sequencing of lung cancer EGFR exons 18-21 allows effective molecular diagnosis of small routine samples (cytology and biopsy).Clinical validation of KRAS, BRAF, and EGFR mutation detection using next-generation sequencing.Personalized sequencing and the future of medicine: discovery, diagnosis and defeat of disease.Evaluation of a new high-throughput next-generation sequencing method based on a custom AmpliSeq™ library and ion torrent PGM™ sequencing for the rapid detection of genetic variations in long QT syndrome.Comparison and evaluation of two exome capture kits and sequencing platforms for variant callingComparison of targeted next-generation sequencing and Sanger sequencing for the detection of PIK3CA mutations in breast cancerPhenotypic and molecular analyses of primary lateral sclerosis.Systems pharmacology modeling: an approach to improving drug safety.Regulating whole exome sequencing as a diagnostic test.Clinical exome performance for reporting secondary genetic findingsClose correlation of copy number aberrations detected by next-generation sequencing with results from routine cytogenetics in acute myeloid leukemia.Clinical impact of a targeted next-generation sequencing gene panel for autoinflammation and vasculitis.Assessing the necessity of confirmatory testing for exome-sequencing results in a clinical molecular diagnostic laboratory.A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield.Genetic Testing for Hereditary Nonpolyposis Colorectal Cancer (HNPCC).Detecting APC Gene Mutations in Familial Adenomatous Polyposis (FAP).The dawn of the liquid biopsy in the fight against cancer.Characterization of mutations in BRCA1/2 and the relationship with clinic-pathological features of breast cancer in a hereditarily high-risk sample of chinese population.Analytical evaluation for somatic mutation detection in circulating tumor cells isolated using a lateral magnetophoretic microseparator.Molecular diagnosis of Duchenne muscular dystrophy.Exploring the Genomic Roadmap and Molecular Phylogenetics Associated with MODY Cascades Using Computational Biology.
P2860
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P2860
Assessment of clinical analytical sensitivity and specificity of next-generation sequencing for detection of simple and complex mutations
description
2013 nî lūn-bûn
@nan
2013 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի փետրվարին 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
Assessment of clinical analyti ...... f simple and complex mutations
@en
Assessment of clinical analyti ...... f simple and complex mutations
@nl
type
label
Assessment of clinical analyti ...... f simple and complex mutations
@en
Assessment of clinical analyti ...... f simple and complex mutations
@nl
prefLabel
Assessment of clinical analyti ...... f simple and complex mutations
@en
Assessment of clinical analyti ...... f simple and complex mutations
@nl
P2093
P2860
P356
P1433
P1476
Assessment of clinical analyti ...... f simple and complex mutations
@en
P2093
Cristina da Silva
Ephrem L H Chin
Madhuri Hegde
P2860
P2888
P356
10.1186/1471-2156-14-6
P577
2013-02-19T00:00:00Z
P5875
P6179
1048085822