Cargando…

Next-Generation Sequencing Analysis of GBA1: The Challenge of Detecting Complex Recombinant Alleles

Detalles Bibliográficos
Autores principales:	Woo, Elizabeth G., Tayebi, Nahid, Sidransky, Ellen
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2021
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8255797/ https://www.ncbi.nlm.nih.gov/pubmed/34234814 http://dx.doi.org/10.3389/fgene.2021.684067

Ejemplares similares

Is Gauchian genotyping of GBA1 variants reliable?
por: Tayebi, Nahid, et al.
Publicado: (2023)

Behavioral Phenotyping in a Murine Model of GBA1-Associated Parkinson Disease
por: Do, Jenny, et al.
Publicado: (2021)

Longitudinal evaluation of olfactory function in individuals with Gaucher disease and GBA1 mutation carriers with and without Parkinson's disease
por: Lopez, Grisel J., et al.
Publicado: (2022)

Estimating Allele Frequency from Next-Generation Sequencing of Pooled Mitochondrial DNA Samples
por: Wang, Tao, et al.
Publicado: (2011)

Novel alleles in the era of next-generation sequencing-based HLA typing calls for standardization and policy
por: Tran, Jenny N., et al.
Publicado: (2023)

Detection of Pathogenic Microbe Composition Using Next-Generation Sequencing Data
por: Zhao, Haiyong, et al.
Publicado: (2020)

Genomic Selection in the Era of Next Generation Sequencing for Complex Traits in Plant Breeding
por: Bhat, Javaid A., et al.
Publicado: (2016)

Small Molecule Chaperones for the Treatment of Gaucher Disease and GBA1-Associated Parkinson Disease
por: Han, Tae-Un, et al.
Publicado: (2020)

Applications for next-generation sequencing in fish ecotoxicogenomics
por: Mehinto, Alvine C., et al.
Publicado: (2012)

The Use of Next-Generation Sequencing in Movement Disorders
por: Krebs, Catharine E., et al.
Publicado: (2012)

Statistics for Next Generation Sequencing – Meeting Report
por: Wu, Hao, et al.
Publicado: (2012)

False negatives in GBA1 sequencing due to polymerase dependent allelic imbalance
por: den Heijer, Jonas M., et al.
Publicado: (2021)

Nanopore long-read next-generation sequencing for detection of mitochondrial DNA large-scale deletions
por: Frascarelli, Chiara, et al.
Publicado: (2023)

Next-Generation Sequencing for Binary Protein–Protein Interactions
por: Suter, Bernhard, et al.
Publicado: (2015)

Next Generation Sequencing Methods for Diagnosis of Epilepsy Syndromes
por: Dunn, Paul, et al.
Publicado: (2018)

Targeted Next-Generation Sequencing in the Diagnosis of Facial Dysostoses
por: Bukowska-Olech, Ewelina, et al.
Publicado: (2020)

The detection of microRNA associated with Alzheimer's disease in biological fluids using next-generation sequencing technologies
por: Cheng, Lesley, et al.
Publicado: (2013)

MFCNV: A New Method to Detect Copy Number Variations From Next-Generation Sequencing Data
por: Zhao, Haiyong, et al.
Publicado: (2020)

Detection of copy number variations based on a local distance using next-generation sequencing data
por: Liu, Guojun, et al.
Publicado: (2023)

Mammalian miRNA curation through next-generation sequencing
por: Brown, Miguel, et al.
Publicado: (2013)

From next-generation sequencing to systematic modeling of the gut microbiome
por: Ji, Boyang, et al.
Publicado: (2015)

Next Generation Sequencing and Bioinformatics Analysis of Family Genetic Inheritance
por: Kanzi, Aquillah M., et al.
Publicado: (2020)

Integrating CRISPR-Cas and Next Generation Sequencing in Plant Virology
por: Mushtaq, Muntazir, et al.
Publicado: (2021)

Editorial: Next Generation Sequencing (NGS) for Rare Diseases Diagnosis
por: Yang, Xiu-An
Publicado: (2021)

Next-generation sequencing improves precision medicine in hearing loss
por: Imizcoz, T., et al.
Publicado: (2023)

HBOS-CNV: A New Approach to Detect Copy Number Variations From Next-Generation Sequencing Data
por: Guo, Yang, et al.
Publicado: (2021)

A Density Peak-Based Method to Detect Copy Number Variations From Next-Generation Sequencing Data
por: Xie, Kun, et al.
Publicado: (2021)

A shortest path-based approach for copy number variation detection from next-generation sequencing data
por: Liu, Guojun, et al.
Publicado: (2023)

Now and Next-Generation Sequencing Techniques: Future of Sequence Analysis Using Cloud Computing
por: Thakur, Radhe Shyam, et al.
Publicado: (2012)

Integration of Next-Generation Sequencing Based Multi-Omics Approaches in Toxicogenomics
por: Jayapal, Manikandan
Publicado: (2012)

Two-phase and family-based designs for next-generation sequencing studies
por: Thomas, Duncan C., et al.
Publicado: (2013)

Application of Next Generation Sequencing for personalized medicine for sudden cardiac death
por: Morini, Elena, et al.
Publicado: (2015)

Quality control of next-generation sequencing data without a reference
por: Trivedi, Urmi H., et al.
Publicado: (2014)

Selecting Classification Methods for Small Samples of Next-Generation Sequencing Data
por: Zhu, Jiadi, et al.
Publicado: (2021)

Next-Generation Sequencing in Newborn Screening: A Review of Current State
por: Remec, Ziga I., et al.
Publicado: (2021)

Investigation of chicken housekeeping genes using next-generation sequencing data
por: Hasanpur, Karim, et al.
Publicado: (2022)

MASQC: Next Generation Sequencing Assists Third Generation Sequencing for Quality Control in N6-Methyladenine DNA Identification
por: Yang, Siqian, et al.
Publicado: (2020)

Next generation genetics
por: Fenger, Mogens
Publicado: (2014)

SeekFusion - A Clinically Validated Fusion Transcript Detection Pipeline for PCR-Based Next-Generation Sequencing of RNA
por: Balan, Jagadheshwar, et al.
Publicado: (2021)

Validation of next-generation sequencing-based chimerism testing for accurate detection and monitoring of engraftment in hematopoietic stem cell transplantation
por: Kakodkar, Pramath, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_ippb7rnf80riqmj7ifllgk4dvp