Cargando…

Detailed analysis of HTT repeat elements in human blood using targeted amplification‐free long‐read sequencing

Amplification of DNA is required as a mandatory step during library preparation in most targeted sequencing protocols. This can be a critical limitation when targeting regions that are highly repetitive or with extreme guanine–cytosine (GC) content, including repeat expansions associated with human...

Descripción completa

Detalles Bibliográficos
Autores principales:	Höijer, Ida, Tsai, Yu‐Chih, Clark, Tyson A., Kotturi, Paul, Dahl, Niklas, Stattin, Eva‐Lena, Bondeson, Marie‐Louise, Feuk, Lars, Gyllensten, Ulf, Ameur, Adam
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2018
Materias:	Research Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6175010/ https://www.ncbi.nlm.nih.gov/pubmed/29932473 http://dx.doi.org/10.1002/humu.23580

Ejemplares similares

Amplification-free long-read sequencing reveals unforeseen CRISPR-Cas9 off-target activity
por: Höijer, Ida, et al.
Publicado: (2020)

CRISPR-Cas9 induces large structural variants at on-target and off-target sites in vivo that segregate across generations
por: Höijer, Ida, et al.
Publicado: (2022)

De Novo Assembly of Two Swedish Genomes Reveals Missing Segments from the Human GRCh38 Reference and Improves Variant Calling of Population-Scale Sequencing Data
por: Ameur, Adam, et al.
Publicado: (2018)

Global and unbiased detection of splice junctions from RNA-seq data
por: Ameur, Adam, et al.
Publicado: (2010)

Identification of novel exons and transcribed regions by chimpanzee transcriptome sequencing
por: Wetterbom, Anna, et al.
Publicado: (2010)

Evaluation of Single-Molecule Sequencing Technologies for Structural Variant Detection in Two Swedish Human Genomes
por: Fatima, Nazeefa, et al.
Publicado: (2020)

A novel approach using long‐read sequencing and ddPCR to investigate gonadal mosaicism and estimate recurrence risk in two families with developmental disorders
por: Wilbe, Maria, et al.
Publicado: (2017)

A novel quantitative targeted analysis of X-chromosome inactivation (XCI) using nanopore sequencing
por: Johansson, Josefin, et al.
Publicado: (2023)

Approaches to Sequence the HTT CAG Repeat Expansion and Quantify Repeat Length Variation
por: Ciosi, Marc, et al.
Publicado: (2021)

Clonal distribution of BCR-ABL1 mutations and splice isoforms by single-molecule long-read RNA sequencing
por: Cavelier, Lucia, et al.
Publicado: (2015)

Parkinsonism with a Hint of Huntington’s from 29 CAG Repeats in HTT
por: JOT, Sipilä
Publicado: (2019)

Genome-wide sequencing for the identification of rearrangements associated with Tourette syndrome and obsessive-compulsive disorder
por: Hooper, Sean D, et al.
Publicado: (2012)

Combination of short-read, long-read, and optical mapping assemblies reveals large-scale tandem repeat arrays with population genetic implications
por: Weissensteiner, Matthias H., et al.
Publicado: (2017)

High frequency of intermediary alleles in the HTT gene in Northern Sweden - The Swedish Huntingtin Alleles and Phenotype (SHAPE) study
por: Sundblom, Jimmy, et al.
Publicado: (2020)

Analysis of HTT CAG repeat expansion in Italian patients with amyotrophic lateral sclerosis
por: Manini, Arianna, et al.
Publicado: (2022)

FAN1 modifies Huntington’s disease progression by stabilizing the expanded HTT CAG repeat
por: Goold, Robert, et al.
Publicado: (2019)

Identification of a HTT-specific binding motif in DNAJB1 essential for suppression and disaggregation of HTT
por: Ayala Mariscal, S. M., et al.
Publicado: (2022)

Integrated analysis on transcriptome and behaviors defines HTT repeat-dependent network modules in Huntington's disease
por: Huang, Lulin, et al.
Publicado: (2021)

HTT-DB: new features and updates
por: Dotto, Bruno Reis, et al.
Publicado: (2018)

5-HTT independent effects of fluoxetine on neuroplasticity
por: Levy, Marion J. F., et al.
Publicado: (2019)

HTT haplogroups in Finnish patients with Huntington disease
por: Ylönen, Susanna, et al.
Publicado: (2019)

N-terminal Huntingtin (Htt) phosphorylation is a molecular switch regulating Htt aggregation, helical conformation, internalization, and nuclear targeting
por: DeGuire, Sean M., et al.
Publicado: (2018)

HuR stabilizes HTT mRNA via interacting with its exon 11 in a mutant HTT-dependent manner
por: Zhao, Quan, et al.
Publicado: (2020)

Amplification-free long-read sequencing of TCF4 expanded trinucleotide repeats in Fuchs Endothelial Corneal Dystrophy
por: Wieben, Eric D., et al.
Publicado: (2019)

Xdrop: Targeted sequencing of long DNA molecules from low input samples using droplet sorting
por: Madsen, Esben B., et al.
Publicado: (2020)

A Novel Triplet-Primed PCR Assay to Detect the Full Range of Trinucleotide CAG Repeats in the Huntingtin Gene (HTT)
por: De Luca, Alessandro, et al.
Publicado: (2021)

CanvasDB: a local database infrastructure for analysis of targeted- and whole genome re-sequencing projects
por: Ameur, Adam, et al.
Publicado: (2014)

HTT2 promotes plant thermotolerance in Brassica rapa
por: Jiang, Jianxia, et al.
Publicado: (2018)

Common founder effects of hereditary hemochromatosis, Wilson´s disease, the long QT syndrome and autosomal recessive deafness caused by two novel mutations in the WHRN and TMC1 genes
por: Olsson, K. Sigvard, et al.
Publicado: (2017)

A progressive and complex clinical course in two family members with ERF-related craniosynostosis: a case report
por: Körberg, Izabella, et al.
Publicado: (2020)

A Detailed Analysis of the Murine TAP Transporter Substrate Specificity
por: Burgevin, Anne, et al.
Publicado: (2008)

Loss aversion and 5HTT gene variants in adolescent anxiety
por: Ernst, Monique, et al.
Publicado: (2013)

Rolling Bearing Fault Diagnosis Based on an Improved HTT Transform
por: Pang, Bin, et al.
Publicado: (2018)

Small molecule splicing modifiers with systemic HTT-lowering activity
por: Bhattacharyya, Anuradha, et al.
Publicado: (2021)

Association analysis of Epworth Sleepiness Scale (ESS) scores with serotonin transporter (5-HTT- LPR, 5-HTT-VNTR) and circadian (PER3-VNTR) genes
por: Ozen, Filiz, et al.
Publicado: (2022)

Robust Preimplantation Genetic Testing of Huntington Disease by Combined Triplet-Primed PCR Analysis of the HTT CAG Repeat and Multi-Microsatellite Haplotyping
por: Zhao, Mingjue, et al.
Publicado: (2019)

Normal range CAG repeat size variations in the HTT gene are associated with an adverse lipoprotein profile partially mediated by body mass index
por: Faquih, Tariq O, et al.
Publicado: (2023)

Multi-Omic Investigations of a 17–19 Translocation Links MINK1 Disruption to Autism, Epilepsy and Osteoporosis
por: Eisfeldt, Jesper, et al.
Publicado: (2022)

Long-read whole-genome analysis of human single cells
por: Hård, Joanna, et al.
Publicado: (2023)

Palmoplantar keratoderma and digital clubbing in 2 sisters with hypertrophic osteoarthropathy
por: Eriksson, Daniel, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_po11qmlj0ppic0hks6l67bhav9