Whole-genome sequencing of patients with rare diseases in a national health system

Whole-genome sequencing of patients with rare diseases in a national health system

Most patients with rare diseases do not receive a molecular diagnosis and the aetiological variants and causative genes for more than half such disorders remain to be discovered. Here we used whole-genome sequencing (WGS) in a national health system to streamline diagnosis and to discover unknown ae...

书目详细资料
Main Authors:	Turro, E, Astle, WJ, Megy, K, Bennett, DL, Ormondroyd, E, Roberts, I, Roy, NBA, Themistocleous, A, Watkins, H
其他作者:	NIHR BioResource for the 100,000 Genomes Project
格式:	Journal article
语言:	English
出版:	Springer Nature 2020

相似书籍

Views of rare disease participants in a UK whole-genome sequencing study towards secondary findings: a qualitative study
由: Mackley, M, et al.
出版: (2018)

Utility of whole-genome sequencing in the clinical diagnostic of rare inherited anaemias
由: C Camps, et al.
出版: (2018)

Stakeholder views on secondary findings in whole-genome and whole-exome sequencing: a systematic review of quantitative and qualitative studies
由: Ormondroyd, E, et al.
出版: (2016)

Whole genome sequencing for the investigation of rare anaemias: challenges and real-world outcomes
由: Brierley, C, et al.
出版: (2019)

Editorial: Whole Genome Sequencing for rare diseases
由: Chiara Di Resta, et al.
出版: (2023-09-01)

Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases
由: Pagnamenta, AT, et al.
出版: (2023)

The Brazilian Rare Genomes Project: Validation of Whole Genome Sequencing for Rare Diseases Diagnosis
由: Antonio Victor Campos Coelho, et al.
出版: (2022-05-01)

Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children
由: French, CE, et al.
出版: (2019)

Whole Genome Sequencing in Pharmacogenomics
由: George P Patrinos, et al.
出版: (2015-03-01)

Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases
由: Alistair T. Pagnamenta, et al.
出版: (2023-11-01)

Clinical Utility of Whole Genome Sequencing for Undiagnosed Rare Genetic Disorders
由: Muhammad Qasim Awan
出版: (2020-03-01)

The Medical Genome Initiative: moving whole-genome sequencing for rare disease diagnosis to the clinic
由: Christian R. Marshall, et al.
出版: (2020-05-01)

Comprehensive rare variant analysis via whole-genome sequencing to determine the molecular pathology of inherited retinal disease
由: Carss, K, et al.
出版: (2016)

Identification of Rare Variants Involved in High Myopia Unraveled by Whole Genome Sequencing
由: Annechien E.G. Haarman, MD, et al.
出版: (2023-12-01)

Contribution of rare whole-genome sequencing variants to plasma protein levels and the missing heritability
由: Marcin Kierczak, et al.
出版: (2022-05-01)

National Biodiversity Authority
由: - NBA
出版: (2018-08-01)

National Biodiversity Authority
由: - NBA
出版: (2018-02-01)

National Biodiversity Authority
由: - NBA
出版: (2018-10-01)

National Biodiversity Authority
由: - NBA
出版: (2018-11-01)

Whole-genome sequencing reveals rare variants associated with gout in Taiwanese males
由: Yu-Ping Tseng, et al.
出版: (2024-09-01)

Whole-Genome Sequencing in Diagnostics of Selected Slovenian Undiagnosed Patients with Rare Disorders
由: Gaber Bergant, et al.
出版: (2021-03-01)

Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing
由: William L. Macken, et al.
出版: (2022-11-01)

Insights from early experience of a Rare Disease Genomic Medicine Multidisciplinary Team: a qualitative study
由: Ormondroyd, E, et al.
出版: (2017)

Identifying insertion mutations by whole-genome sequencing
由: Harold E. Smith
出版: (2011-02-01)

Whole-Genome Sequences and Classification of
由: Dzink-Fox, J., et al.
出版: (2017)

Machine learning approaches for advanced detection of rare genetic disorders in whole-genome sequencing
由: Ahmad A. Alzahrani, et al.
出版: (2024-11-01)

Lessons from national biobank projects utilizing whole-genome sequencing for population-scale genomics
由: Hyeji Lee, et al.
出版: (2025-03-01)

Detection of a Distinctive Genomic Signature in Rhabdoid Glioblastoma, A Rare Disease Entity Identified by Whole Exome Sequencing and Whole Transcriptome Sequencing
由: Youngil Koh, et al.
出版: (2015-08-01)

Implementation of a genomic medicine multi-disciplinary team approach for rare disease in the clinical setting: a prospective exome sequencing case series
由: Taylor, J, et al.
出版: (2019)

Whole-genome sequencing of a sporadic primary immunodeficiency cohort
由: Thaventhiran, JED, et al.
出版: (2020)

Genome sequencing and implications for rare disorders
由: Jennifer E. Posey
出版: (2019-06-01)

Genomic and geospatial epidemiology of Mycobacterium tuberculosis in Oman: first national insight using whole genome sequencing
由: Amina Al-Jardani, et al.
出版: (2023-05-01)

Haemophilus influence: the impact of whole genome sequencing on microbiology.
由: Tang, C, et al.
出版: (1997)

Challenges and recommendations to increasing the use of exome sequencing and whole genome sequencing for diagnosing rare diseases in Brazil: an expert perspective
由: Têmis Maria Félix, et al.
出版: (2023-01-01)

Integrating whole-genome sequencing within the National Antimicrobial Resistance Surveillance Program in the Philippines
由: Silvia Argimón, et al.
出版: (2020-06-01)

Whole genome sequencing of Mycobacterium tuberculosis
由: Cabibbe, A, et al.
出版: (2018)

Whole genome sequencing in clinical practice
由: Frederik Otzen Bagger, et al.
出版: (2024-01-01)

Whole Genome Sequencing in Cancer Clinics
由: Ken Chen, et al.
出版: (2015-01-01)

A pipeline for sample tagging of whole genome bisulfite sequencing data using genotypes of whole genome sequencing
由: Zhe Xu, et al.
出版: (2023-06-01)

Genomic sequencing in oncology: Considerations for integration in routine cancer care
由: Rahman, B, et al.
出版: (2022)