Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

DNA Sequence Capture and Enrichment by Microarray Followed by Next-Generation Sequencing for Targeted Resequencing: Neurofibromatosis Type 1 Gene as a Model

13 Nov 2009

Abstract excerpt

BACKGROUND: The introduction and use of next-generation sequencing (NGS) techniques have taken genomic research into a new era; however, implementing such powerful techniques in diagnostics laboratories for applications such as resequencing of targeted disease genes requires attention to technical issues, including sequencing template enrichment, management of massive data, and high interference by homologous...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Genomic variations and chromosomal abnormalities
Share to Neuroblastoma Research and Treatments
Share to Neurofibromatosis and Schwannoma Cases

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Source

Identifiers

PMID: 19910506
DOI: 10.1373/clinchem.2009.132639

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 24 Oct 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

DNA Sequence Capture and Enrichment by Microarray Followed by Next-Generation Sequencing for Targeted Resequencing: Neurofibromatosis Type 1 Gene as a ModelPMID 19910506Read ↗

Neurofibromatosis type 1 gene mutation analysis using sequence capture and high-throughput sequencing.Semantic proximity Read ↗

The use of next-generation sequencing in molecular diagnosis of neurofibromatosis type 1: a validation study.Semantic proximity Read ↗

Validation of a Next-Generation Sequencing Pipeline for the Molecular Diagnosis of Multiple Inherited Cancer Predisposing Syndromes.Semantic proximity Read ↗

Neurofibromatosis type 1 molecular diagnosis: what can NGS do for you when you have a large gene with loss of function mutations?Semantic proximity Read ↗

Combinatorial sequencing-by-hybridization: analysis of the NF1 gene.Semantic proximity Read ↗

High-yield identification of pathogenic NF1 variants by skin fibroblast transcriptome screening after apparently normal diagnostic DNA testing.Semantic proximity Read ↗

Identification of neurofibromatosis 1 (NF1) homologous loci by direct sequencing, fluorescence in situ hybridization, and PCR amplification of somatic cell hybrids.Semantic proximity Read ↗

High-Yield DNA-Based Neurofibromatosis Type 1 Diagnostics Reveal Population-Specific Mutation Landscape in 1917 Koreans.Semantic proximity Read ↗

Comprehensive Analysis of the NF1 gene Using Long-Read Sequencing Improved Neurofibromatosis type 1 Molecular DiagnosisSemantic proximity Read ↗

Clinical and Molecular Characterization of NF1 Patients: Single-Center Experience of 32 Patients From China.Semantic proximity Read ↗

Massively parallel sequencing of ataxia genes after array-based enrichment.Semantic proximity Read ↗

Development of a practical NF1 genetic testing method through the pilot analysis of five Japanese families with neurofibromatosis type 1.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.