Simultaneous mutation and copy number variation (CNV) detection by multiplex PCR-based GS-FLX sequencing.
about
Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencingDirect multiplex sequencing (DMPS)--a novel method for targeted high-throughput sequencing of ancient and highly degraded DNAFilter-based hybridization capture of subgenomes enables resequencing and copy-number detection.Haplotyping and copy number estimation of the highly polymorphic human beta-defensin locus on 8p23 by 454 amplicon sequencing.Multiplex Amplicon Quantification (MAQ), a fast and efficient method for the simultaneous detection of copy number alterations in neuroblastomaManagement of High-Throughput DNA Sequencing Projects: Alpheus.Amplicon-based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients.Identification of gene mutations in autosomal dominant polycystic kidney disease through targeted resequencing.Next-generation sequencing meets genetic diagnostics: development of a comprehensive workflow for the analysis of BRCA1 and BRCA2 genes.Comprehensive mutation analysis for congenital muscular dystrophy: a clinical PCR-based enrichment and next-generation sequencing panel.Improving mutation screening in familial hematuric nephropathies through next generation sequencing.The use of next-generation sequencing in clinical diagnosis of familial hypercholesterolemia.Investigating the role of filamin C in Belgian patients with frontotemporal dementia linked to GRN deficiency in FTLD-TDP brains.Comparison of targeted next-generation sequencing and Sanger sequencing for the detection of PIK3CA mutations in breast cancerSchizophrenia-Associated MIR204 Regulates Noncoding RNAs and Affects Neurotransmitter and Ion Channel Gene Sets.Diagnostic use of Massively Parallel Sequencing in Neuromuscular Diseases: Towards an Integrated Diagnosis.Simultaneous detection of BRCA mutations and large genomic rearrangements in germline DNA and FFPE tumor samples.The next-generation sequencing technology and application.Exome sequencing: dual role as a discovery and diagnostic tool.Technological advances in DNA sequence enrichment and sequencing for germline genetic diagnosis.High-frequency, low-coverage "false positives" mutations may be true in GS Junior sequencing studies.Guanosine triphosphate cyclohydrolase 1 promoter deletion causes dopa-responsive dystonia.Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract.Massive parallel amplicon sequencing of the breast cancer genes BRCA1 and BRCA2: opportunities, challenges, and limitations.Nonoptical massive parallel DNA sequencing of BRCA1 and BRCA2 genes in a diagnostic setting.
P2860
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P2860
Simultaneous mutation and copy number variation (CNV) detection by multiplex PCR-based GS-FLX sequencing.
description
2009 nî lūn-bûn
@nan
2009年の論文
@ja
2009年学术文章
@wuu
2009年学术文章
@zh-cn
2009年学术文章
@zh-hans
2009年学术文章
@zh-my
2009年学术文章
@zh-sg
2009年學術文章
@yue
2009年學術文章
@zh
2009年學術文章
@zh-hant
name
Simultaneous mutation and copy ...... x PCR-based GS-FLX sequencing.
@en
Simultaneous mutation and copy number variation
@nl
type
label
Simultaneous mutation and copy ...... x PCR-based GS-FLX sequencing.
@en
Simultaneous mutation and copy number variation
@nl
prefLabel
Simultaneous mutation and copy ...... x PCR-based GS-FLX sequencing.
@en
Simultaneous mutation and copy number variation
@nl
P2093
P2860
P356
P1433
P1476
Simultaneous mutation and copy ...... x PCR-based GS-FLX sequencing.
@en
P2093
An-Sofie Lenaerts
Andreas Kalbe
Bruno Frey
Guido Kopal
Jurgen Del-Favero
Lotte N Moens
Peter De Jonghe
Wim Glassee
P2860
P304
P356
10.1002/HUMU.20873
P577
2009-03-01T00:00:00Z