Cargando…

Shedding light on dark genes: enhanced targeted resequencing by optimizing the combination of enrichment technology and DNA fragment length

The exome contains many obscure regions difficult to explore with current short-read sequencing methods. Repetitious genomic regions prevent the unique alignment of reads, which is essential for the identification of clinically-relevant genetic variants. Long-read technologies attempt to resolve mul...

Descripción completa

Detalles Bibliográficos
Autores principales:	Iadarola, Barbara, Xumerle, Luciano, Lavezzari, Denise, Paterno, Marta, Marcolungo, Luca, Beltrami, Cristina, Fortunati, Elisabetta, Mei, Davide, Vetro, Annalisa, Guerrini, Renzo, Parrini, Elena, Rossato, Marzia, Delledonne, Massimo
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2020
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7287100/ https://www.ncbi.nlm.nih.gov/pubmed/32523024 http://dx.doi.org/10.1038/s41598-020-66331-z

Ejemplares similares

A Long-Read Sequencing Approach for Direct Haplotype Phasing in Clinical Settings
por: Maestri, Simone, et al.
Publicado: (2020)

Characterization of FMR1 Repeat Expansion and Intragenic Variants by Indirect Sequence Capture
por: Grosso, Valentina, et al.
Publicado: (2021)

ACoRE: Accurate SARS-CoV-2 genome reconstruction for the characterization of intra-host and inter-host viral diversity in clinical samples and for the evaluation of re-infections
por: Marcolungo, Luca, et al.
Publicado: (2021)

Whole-exome sequencing of the mummified remains of Cangrande della Scala (1291–1329 CE) indicates the first known case of late-onset Pompe disease
por: Iadarola, Barbara, et al.
Publicado: (2021)

Exosomes from Plasma of Neuroblastoma Patients Contain Doublestranded DNA Reflecting the Mutational Status of Parental Tumor Cells
por: Degli Esposti, Chiara, et al.
Publicado: (2021)

STArS (STrain-Amplicon-Seq), a targeted nanopore sequencing workflow for SARS-CoV-2 diagnostics and genotyping
por: Maestri, Simone, et al.
Publicado: (2022)

A Rapid and Accurate MinION-Based Workflow for Tracking Species Biodiversity in the Field
por: Maestri, Simone, et al.
Publicado: (2019)

Chlorella vulgaris genome assembly and annotation reveals the molecular basis for metabolic acclimation to high light conditions
por: Cecchin, Michela, et al.
Publicado: (2019)

On site DNA barcoding by nanopore sequencing
por: Menegon, Michele, et al.
Publicado: (2017)

Structural Refinement by Direct Mapping Reveals Assembly Inconsistencies near Hi-C Junctions
por: Marcolungo, Luca, et al.
Publicado: (2023)

Early infantile epileptic-dyskinetic encephalopathy due to biallelic PIGP mutations
por: Vetro, Annalisa, et al.
Publicado: (2020)

Deep whole-genome resequencing sheds light on the distribution and effect of amphioxus SNPs
por: Zhu, Yunchi, et al.
Publicado: (2022)

Shedding light on dark adaptation
por: Weiss, Ellen
Publicado: (2020)

Role of phage ϕ1 in two strains of Salmonella Rissen, sensitive and resistant to phage ϕ1
por: Papaianni, Marina, et al.
Publicado: (2018)

‘Nebbiolo’ genome assembly allows surveying the occurrence and functional implications of genomic structural variations in grapevines (Vitis vinifera L.)
por: Maestri, Simone, et al.
Publicado: (2022)

Shedding Light on the Dark Side of the Microglia
por: St-Pierre, Marie-Kim, et al.
Publicado: (2020)

Characterization of full-length CNBP expanded alleles in myotonic dystrophy type 2 patients by Cas9-mediated enrichment and nanopore sequencing
por: Alfano, Massimiliano, et al.
Publicado: (2022)

Chromothripsis and ring chromosome 22: a paradigm of genomic complexity in the Phelan-McDermid syndrome (22q13 deletion syndrome)
por: Kurtas, Nehir, et al.
Publicado: (2018)

Shedding new light on genetic dark matter
por: Melhem, Nadine, et al.
Publicado: (2010)

CMB photons shedding light on dark matter
por: Giesen, Gaelle, et al.
Publicado: (2012)

CRISPR/Cas9-Mediated Enrichment Coupled to Nanopore Sequencing Provides a Valuable Tool for the Precise Reconstruction of Large Genomic Target Regions
por: Lopatriello, Giulia, et al.
Publicado: (2023)

Shedding light on the $b\to s$ anomalies with a dark sector
por: Aristizabal Sierra, D., et al.
Publicado: (2015)

“The Hadron Collider will shed first light into the dark universe”
Publicado: (2009)

Shedding light on the ‘dark side’ of phylogenetic comparative methods
por: Cooper, Natalie, et al.
Publicado: (2016)

The human oral virome: Shedding light on the dark matter
por: Martínez, April, et al.
Publicado: (2021)

The case for resequencing studies of Arabidopsis thaliana accessions: mining the dark matter of natural genetic variation
por: Santuari, Luca, et al.
Publicado: (2010)

Hybrid genome assembly and annotation of Paenibacillus pasadenensis strain R16 reveals insights on endophytic life style and antifungal activity
por: Passera, Alessandro, et al.
Publicado: (2018)

Shedding light on dark matter – faecal microbiota transplantation in Europe
por: Wortelboer, Koen, et al.
Publicado: (2021)

MDverse: Shedding Light on the Dark Matter of Molecular Dynamics Simulations
por: Tiemann, Johanna K. S., et al.
Publicado: (2023)

CRISPR-Cas9-based repeat depletion for high-throughput genotyping of complex plant genomes
por: Rossato, Marzia, et al.
Publicado: (2023)

Shed some light on darkness: will Tanzania reach the millennium development goals?
por: Janson, Annika
Publicado: (2007)

Extraction and Detection of Avian Influenza Virus From Wetland Sediment Using Enrichment-Based Targeted Resequencing
por: Tindale, Lauren C., et al.
Publicado: (2020)

Single cell biotechnology to shed a light on biological ‘dark matter’ in nature
por: Huang, Wei E, et al.
Publicado: (2015)

Use of Hyperspectral/Multispectral Imaging in Gastroenterology. Shedding Some–Different–Light into the Dark
por: Ortega, Samuel, et al.
Publicado: (2019)

Shed Light in the DaRk LineagES of the Fungal Tree of Life—STRES
por: Selbmann, Laura, et al.
Publicado: (2020)

Shedding Light on Thermally Induced Optocapacitance at the Organic Biointerface
por: Bondelli, Gaia, et al.
Publicado: (2021)

String fragmentation in supercooled confinement and implications for dark matter
por: Gouttenoire, Yann
Publicado: (2021)

Shedding light on the composition of extreme microbial dark matter: alternative approaches for culturing extremophiles
por: Schultz, Júnia, et al.
Publicado: (2023)

Real-Time On-Site Diagnosis of Quarantine Pathogens in Plant Tissues by Nanopore-Based Sequencing
por: Marcolungo, Luca, et al.
Publicado: (2022)

Could Proteomics Become a Future Useful Tool to Shed Light on the Mechanisms of Rare Neurodegenerative Disorders?
por: Cagnone, Maddalena, et al.
Publicado: (2018)

Cannot write session to /tmp/vufind_sessions/sess_mimhe6mj6m2kcsome9viu274it