Cargando…

Assessment of the latest NGS enrichment capture methods in clinical context

Enrichment capture methods for NGS are widely used, however, they evolve rapidly and it is necessary to periodically measure their strengths and weaknesses before transfer to diagnostic services. We assessed two recently released custom DNA solution-capture enrichment methods for NGS, namely Illumin...

Descripción completa

Detalles Bibliográficos
Autores principales:	García-García, Gema, Baux, David, Faugère, Valérie, Moclyn, Mélody, Koenig, Michel, Claustres, Mireille, Roux, Anne-Françoise
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group 2016
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4750071/ https://www.ncbi.nlm.nih.gov/pubmed/26864517 http://dx.doi.org/10.1038/srep20948

Ejemplares similares

Experience of targeted Usher exome sequencing as a clinical test
por: Besnard, Thomas, et al.
Publicado: (2014)

The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes MYO7A and USH2A
por: Mansard, Luke, et al.
Publicado: (2021)

Large genomic rearrangements within the PCDH15 gene are a significant cause of USH1F syndrome
por: Le Guédard, Sandie, et al.
Publicado: (2007)

The contribution of GPR98 and DFNB31 genes to a Spanish Usher syndrome type 2 cohort
por: García-García, Gema, et al.
Publicado: (2013)

When Familial Hearing Loss Means Genetic Heterogeneity: A Model Case Report
por: Cenni, Camille, et al.
Publicado: (2021)

A 4.6 Mb Inversion Leading to PCDH15-LINC00844 and BICC1-PCDH15 Fusion Transcripts as a New Pathogenic Mechanism Implicated in Usher Syndrome Type 1
por: Vaché, Christel, et al.
Publicado: (2020)

Molecular epidemiology of DFNB1 deafness in France
por: Roux, Anne-Françoise, et al.
Publicado: (2004)

Identification of three novel OA1 gene mutations identified in three families misdiagnosed with congenital nystagmus and carrier status determination by real-time quantitative PCR assay
por: Faugère, Valérie, et al.
Publicado: (2003)

Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients
por: Baux, D., et al.
Publicado: (2017)

Evaluating the Transition from Targeted to Exome Sequencing: A Guide for Clinical Laboratories
por: Yauy, Kevin, et al.
Publicado: (2023)

First molecular screening of deafness in the Altai Republic population
por: Posukh, Olga, et al.
Publicado: (2005)

Novel deletions involving the USH2A gene in patients with Usher syndrome and retinitis pigmentosa
por: García-García, Gema, et al.
Publicado: (2014)

Identification of the First Single GSDME Exon 8 Structural Variants Associated with Autosomal Dominant Hearing Loss
por: Mansard, Luke, et al.
Publicado: (2022)

Universal Target Capture of HIV Sequences From NGS Libraries
por: Yamaguchi, Julie, et al.
Publicado: (2018)

Targeted capture enrichment followed by NGS: development and validation of a single comprehensive NIPT for chromosomal aneuploidies, microdeletion syndromes and monogenic diseases
por: Koumbaris, George, et al.
Publicado: (2019)

What Is the Best NGS Enrichment Method for the Molecular Diagnosis of Monogenic Diabetes and Obesity?
por: Philippe, Julien, et al.
Publicado: (2015)

Expanding genotype/phenotype of neuromuscular diseases by comprehensive target capture/NGS
por: Tian, Xia, et al.
Publicado: (2015)

PB1779: FLT3-ITD MUTATION CHARACTERIZATION WITH CLASSICAL PCR METHODOLOGY VERSUS CAPTURE- AND AMPLICON-BASED NGS PLATFORMS: A PETHEMA NGS-AML PROJECT
por: Bilbao, Cristina, et al.
Publicado: (2023)

First Identification of RNA-Binding Proteins That Regulate Alternative Exons in the Dystrophin Gene
por: Miro, Julie, et al.
Publicado: (2020)

CRISPR/Cas9 targeted CAPTURE of mammalian genomic regions for characterization by NGS
por: Slesarev, Alexei, et al.
Publicado: (2019)

Targeted RNA-Seq profiling of splicing pattern in the DMD gene: exons are mostly constitutively spliced in human skeletal muscle
por: Bougé, Anne-Laure, et al.
Publicado: (2017)

Erratum: Targeted RNA-Seq profiling of splicing pattern in the DMD gene: exons are mostly constitutively spliced in human skeletal muscle
por: Bougé, Anne-Laure, et al.
Publicado: (2017)

Screening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on Sanger sequencing
por: Steele-Stallard, Heather B, et al.
Publicado: (2013)

Improving the Management of Patients with Hearing Loss by the Implementation of an NGS Panel in Clinical Practice
por: García-García, Gema, et al.
Publicado: (2020)

Targeted capture-based NGS is superior to multiplex PCR-based NGS for hereditary BRCA1 and BRCA2 gene analysis in FFPE tumor samples
por: Zakrzewski, Falk, et al.
Publicado: (2019)

Targeted exon capture and NGS to investigate an undefined myopathy reveal RYR1 variants
por: Stowell, Kathryn, et al.
Publicado: (2014)

The effect of PTC124 on choroideremia fibroblasts and iPSC-derived RPE raises considerations for therapy
por: Torriano, Simona, et al.
Publicado: (2018)

A duck RH panel and its potential for assisting NGS genome assembly
por: Rao, Man, et al.
Publicado: (2012)

Hydrophobic pulses predict transmembrane helix irregularities and channel transmembrane units
por: Paulet, Damien, et al.
Publicado: (2011)

Are p.I148T, p.R74W and p.D1270N cystic fibrosis causing mutations ?
por: Claustres, Mireille, et al.
Publicado: (2004)

Genome Editing in Patient iPSCs Corrects the Most Prevalent USH2A Mutations and Reveals Intriguing Mutant mRNA Expression Profiles
por: Sanjurjo-Soriano, Carla, et al.
Publicado: (2019)

Clinical Nutrition of Critically Ill Patients in the Context of the Latest ESPEN Guidelines
por: Gostyńska, Aleksandra, et al.
Publicado: (2019)

Differential diagnosis of vacuolar myopathies in the NGS era
por: Mair, Dorothea, et al.
Publicado: (2020)

Hearing loss in inherited peripheral neuropathies: Molecular diagnosis by NGS in a French series
por: Lerat, Justine, et al.
Publicado: (2019)

Assessment of the clinical utility of four NGS panels in myeloid malignancies. Suggestions for NGS panel choice or design
por: Aguilera-Diaz, Almudena, et al.
Publicado: (2020)

Photomutagenicity of chlorpromazine and its N-demethylated metabolites assessed by NGS
por: Agúndez, José A. G., et al.
Publicado: (2020)

Context and competition in the capture of visual attention
por: Hickey, Clayton, et al.
Publicado: (2011)

In-solution Y-chromosome capture-enrichment on ancient DNA libraries
por: Cruz-Dávalos, Diana I., et al.
Publicado: (2018)

877. Diagnostic Values of Viral Target Enriched and Metagenomic NGS among Patients with Acute Undifferentiated Fever in Thailand
por: Yamaguchi, Julie, et al.
Publicado: (2023)

Addendum to the NGS report
por: CERN. Geneva. SPS-PS Experiments Committee
Publicado: (1999)

Cannot write session to /tmp/vufind_sessions/sess_lglvubd6phl9fc6euektcld3eh