Cargando…

Positioning whole exome sequencing in the diagnostic pathway for rare disease to optimise utility: a protocol for an observational cohort study and an economic evaluation

INTRODUCTION: Despite the superior diagnostic performance of exome and genome sequencing compared with conventional genetic tests, evidence gaps related to clinical utility and cost effectiveness have limited their availability in routine clinical practice in many jurisdictions. To inform adoption a...

Descripción completa

Detalles Bibliográficos
Autores principales:	Hayeems, Robin Z, Bernier, Francois, Boycott, Kym M, Hartley, Taila, Michaels-Igbokwe, Christine, Marshall, Deborah A
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BMJ Publishing Group 2022
Materias:	Genetics and Genomics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9557316/ https://www.ncbi.nlm.nih.gov/pubmed/36216418 http://dx.doi.org/10.1136/bmjopen-2022-061468

Ejemplares similares

Concordance between whole‐exome sequencing and clinical Sanger sequencing: implications for patient care
por: Hamilton, Alison, et al.
Publicado: (2016)

Whole-Exome Sequencing Reveals Rare Germline Mutations in Patients With Hemifacial Microsomia
por: Chen, Xiaojun, et al.
Publicado: (2021)

Novel multi-nucleotide polymorphisms in the human genome characterized by whole genome and exome sequencing
por: Rosenfeld, Jeffrey A., et al.
Publicado: (2010)

HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study
por: Friez, Michael J, et al.
Publicado: (2016)

Determining the frequency of pathogenic germline variants from exome sequencing in patients with castrate-resistant prostate cancer
por: Hart, Steven N, et al.
Publicado: (2016)

Whole Exome Sequencing Aids the Diagnosis of Fetal Skeletal Dysplasia
por: Tang, Hui, et al.
Publicado: (2021)

Protein Network Analysis of Whole Exome Sequencing of Severe Preeclampsia
por: Schuster, Jessica, et al.
Publicado: (2022)

Development of a microcosting protocol to determine the economic cost of diagnostic genomic testing for rare diseases in Australia
por: Mordaunt, Dylan A, et al.
Publicado: (2023)

The utility of exome sequencing for genetic diagnosis in a familial microcephaly epilepsy syndrome
por: McDonell, Laura M, et al.
Publicado: (2014)

Whole-Exome Sequencing Enables the Diagnosis of Variant-Type Xeroderma Pigmentosum
por: Fang, Xiaokai, et al.
Publicado: (2019)

Clinical Application of Whole Exome Sequencing for Monogenic Disorders in PICU of China
por: Liu, Yingchao, et al.
Publicado: (2021)

Whole Exome Sequencing Identifies Genes Associated With Non-Obstructive Azoospermia
por: Zhang, Hongguo, et al.
Publicado: (2022)

Whole Exome Sequencing Identified a Novel Biallelic SMARCAL1 Mutation in the Extremely Rare Disease SIOD
por: Jin, Jing, et al.
Publicado: (2019)

Rare Variants in Novel Candidate Genes Associated With Nonsyndromic Patent Ductus Arteriosus Identified With Whole-Exome Sequencing
por: Gao, Ying, et al.
Publicado: (2022)

A Protocol for Preconceptional Screening of Consanguineous Couples Using Whole Exome Sequencing
por: dos Santos, Carolina Maria de Araújo, et al.
Publicado: (2021)

Whole-Exome Sequencing Implicates Neuronal Calcium Channel with Familial Atrial Fibrillation
por: Vad, Oliver Bundgaard, et al.
Publicado: (2022)

Fusion Gene Detection Using Whole-Exome Sequencing Data in Cancer Patients
por: Deng, Wenjiang, et al.
Publicado: (2022)

Whole-Exome Sequencing Analysis of Human Semen Quality in Russian Multiethnic Population
por: Kolmykov, Semyon, et al.
Publicado: (2021)

Whole-Exome Sequencing Identified CFTR Variants in Two Consanguineous Families in China
por: Yang, Binyi, et al.
Publicado: (2021)

Whole-exome identifies germline variants in families with obstructive sleep apnea syndrome
por: de Azevedo, Pedro Guimarães, et al.
Publicado: (2023)

The impact of post-alignment processing procedures on whole-exome sequencing data
por: Borges, Murilo Guimarães, et al.
Publicado: (2020)

Whole genome comparison of a large collection of mycobacteriophages reveals a continuum of phage genetic diversity
por: Pope, Welkin H, et al.
Publicado: (2015)

Parallel Tests of Whole Exome Sequencing and Copy Number Variant Sequencing Increase the Diagnosis Yields of Rare Pediatric Disorders
por: Hu, Xuyun, et al.
Publicado: (2020)

Whole-genome sequencing analysis of semi-supercentenarians
por: Garagnani, Paolo, et al.
Publicado: (2021)

Molecular Diagnosis of Inherited Retinal Diseases in Indigenous African Populations by Whole-Exome Sequencing
por: Roberts, Lisa, et al.
Publicado: (2016)

Identification of the Germline Mutation Profile in Esophageal Squamous Cell Carcinoma by Whole Exome Sequencing
por: Deng, Jiaying, et al.
Publicado: (2019)

Whole Exome Sequencing Identifies a Novel Pathogenic RET Variant in Hirschsprung Disease
por: Wu, Wei, et al.
Publicado: (2019)

Advancing Personalized Medicine Through the Application of Whole Exome Sequencing and Big Data Analytics
por: Suwinski, Pawel, et al.
Publicado: (2019)

Genetic Analysis of Children With Unexplained Developmental Delay and/or Intellectual Disability by Whole-Exome Sequencing
por: Xiang, Jingjing, et al.
Publicado: (2021)

Candidate genes and sequence variants for susceptibility to mycobacterial infection identified by whole-exome sequencing
por: Varzari, Alexander, et al.
Publicado: (2022)

Prognosis and personalized medicine prediction by integrated whole exome and transcriptome sequencing of hepatocellular carcinoma
por: Li, Debao, et al.
Publicado: (2023)

Familial Whole Exome Sequencing Study of 30 Families With Early-Onset High Myopia
por: Yang, Entuan, et al.
Publicado: (2023)

Identification of potential key variants in mandibular premolar hypodontia through whole-exome sequencing
por: Lee, Shinyeop, et al.
Publicado: (2023)

The implementation and utility of clinical exome sequencing in a South African infant cohort
por: Campbell, L., et al.
Publicado: (2023)

Genetic Landscape of Rare Autoinflammatory Disease Variants in Qatar and Middle Eastern Populations Through the Integration of Whole-Genome and Exome Datasets
por: Sharma, Parul, et al.
Publicado: (2021)

Prenatal genetic diagnosis of omphalocele by karyotyping, chromosomal microarray analysis and exome sequencing
por: Shi, Xiaomei, et al.
Publicado: (2021)

Whole-exome sequencing identified a novel mutation of AURKC in a Chinese family with macrozoospermia
por: Hua, Juan, et al.
Publicado: (2018)

Evaluation of Diagnostic Yield in Fetal Whole-Exome Sequencing: A Report on 45 Consecutive Families
por: Greenbaum, Lior, et al.
Publicado: (2019)

Whole-Exome Sequencing of Discordant Monozygotic Twin Families for Identification of Candidate Genes for Microtia-Atresia
por: Fan, Xinmiao, et al.
Publicado: (2020)

SECNVs: A Simulator of Copy Number Variants and Whole-Exome Sequences From Reference Genomes
por: Xing, Yue, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_kekbt39j1jg11trcle7tt15rjn