Cargando…

Guidelines for diagnostic next-generation sequencing

We present, on behalf of EuroGentest and the European Society of Human Genetics, guidelines for the evaluation and validation of next-generation sequencing (NGS) applications for the diagnosis of genetic disorders. The work was performed by a group of laboratory geneticists and bioinformaticians, an...

Descripción completa

Detalles Bibliográficos
Autores principales:	Matthijs, Gert, Souche, Erika, Alders, Mariëlle, Corveleyn, Anniek, Eck, Sebastian, Feenstra, Ilse, Race, Valérie, Sistermans, Erik, Sturm, Marc, Weiss, Marjan, Yntema, Helger, Bakker, Egbert, Scheffer, Hans, Bauer, Peter
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group 2016
Materias:	Policy
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795226/ https://www.ncbi.nlm.nih.gov/pubmed/26508566 http://dx.doi.org/10.1038/ejhg.2015.226

Ejemplares similares

European registration process for Clinical Laboratory Geneticists in genetic healthcare
por: Liehr, Thomas, et al.
Publicado: (2017)

Recommendations for whole genome sequencing in diagnostics for rare diseases
por: Souche, Erika, et al.
Publicado: (2022)

The next controversy in genetic testing: clinical data as trade secrets?
por: Cook-Deegan, Robert, et al.
Publicado: (2013)

A standardized framework for the validation and verification of clinical molecular genetic tests
por: Mattocks, Christopher J, et al.
Publicado: (2010)

Regarding the rights and duties of Clinical Laboratory Geneticists in genetic healthcare systems; results of a survey in over 50 countries
por: Liehr, Thomas, et al.
Publicado: (2019)

Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2
por: Kamsteeg, Erik-Jan, et al.
Publicado: (2012)

COVID-19 and Italy: what next?
por: Remuzzi, Andrea, et al.
Publicado: (2020)

Manslaughter by Fake Artesunate in Asia—Will Africa Be Next?
por: Newton, Paul N, et al.
Publicado: (2006)

SynTView — an interactive multi-view genome browser for next-generation comparative microorganism genomics
por: Lechat, Pierre, et al.
Publicado: (2013)

Which factors may determine the necessary and feasible type of effectiveness evidence? A mixed methods approach to develop an instrument to help coverage decision-makers
por: de Groot, Saskia, et al.
Publicado: (2015)

Health and Social Care Reform in Scotland – What Next?
por: Hendry, Anne, et al.
Publicado: (2021)

Pathogenic P554S Variant in TLR3 in a Patient with Severe Influenza Pneumonia
por: Bucciol, Giorgia, et al.
Publicado: (2021)

Enabling the Development and Deployment of Next Generation Point-of-Care Diagnostics
por: Derda, Ratmir, et al.
Publicado: (2015)

SPG20 mutation in three siblings with familial hereditary spastic paraplegia
por: Dardour, Leila, et al.
Publicado: (2017)

Preparing for the Next Pandemic
por: Jaquis, William P., et al.
Publicado: (2021)

EMQN/CMGS best practice guidelines for the molecular genetic testing of Huntington disease
por: Losekoot, Monique, et al.
Publicado: (2013)

The Global Health System: Strengthening National Health Systems as the Next Step for Global Progress
por: Frenk, Julio
Publicado: (2010)

Concept review of regionalized systems of acute care: Is regionalization the next frontier in sepsis care?
por: Walton, Nathan T., et al.
Publicado: (2022)

HIV prevention for the next decade: Appropriate, person-centred, prioritised, effective, combination prevention
por: Godfrey-Faussett, Peter, et al.
Publicado: (2022)

BBMRI-ERIC as a resource for pharmaceutical and life science industries: the development of biobank-based Expert Centres
por: van Ommen, Gert-Jan B, et al.
Publicado: (2015)

A Novel Kindred with MyD88 Deficiency
por: Bucciol, Giorgia, et al.
Publicado: (2022)

How to achieve trustworthy artificial intelligence for health
por: Bærøe, Kristine, et al.
Publicado: (2020)

Reflecting on Earlier Experiences with Unsolicited Findings: Points to Consider for Next-Generation Sequencing and Informed Consent in Diagnostics
por: Rigter, Tessel, et al.
Publicado: (2013)

DeNovoCNN: a deep learning approach to de novo variant calling in next generation sequencing data
por: Khazeeva, Gelana, et al.
Publicado: (2022)

Toward a roadmap in global biobanking for health
por: Harris, Jennifer R, et al.
Publicado: (2012)

Pediatric Oncology as the Next Global Child Health Priority: The Need for National Childhood Cancer Strategies in Low- and Middle-Income Countries
por: Gupta, Sumit, et al.
Publicado: (2014)

Analysis of Neglected Tropical Disease Drug and Vaccine Development Pipelines to Predict Issuance of FDA Priority Review Vouchers over the Next Decade
por: Stefanakis, Rianna, et al.
Publicado: (2012)

Will Ebola change the game? Ten essential reforms before the next pandemic. The report of the Harvard-LSHTM Independent Panel on the Global Response to Ebola
por: Moon, Suerie, et al.
Publicado: (2015)

A lethal course of hypertrophic cardiomyopathy in Noonan syndrome due to a novel germline mutation in the KRAS gene: case study
por: Nosan, Gregor, et al.
Publicado: (2013)

por: Nosan, Gregor, et al.
Publicado: (2014)

Accurate detection of clinically relevant uniparental disomy from exome sequencing data
por: Yauy, Kevin, et al.
Publicado: (2019)

SLC37A4‐CDG: Second patient
por: Wilson, Matthew P., et al.
Publicado: (2021)

Respect, justice and learning are limited when patients are deidentified data subjects
por: Gross, Marielle S., et al.
Publicado: (2022)

Incremental benefits of novel pharmaceuticals in the UK: a cross-sectional analysis of NICE technology appraisals from 2010 to 2020
por: Polak, Tobias B, et al.
Publicado: (2022)

Integrating competency-based education with a case-based or problem-based learning approach in online health sciences
por: Sistermans, Ilse Johanna
Publicado: (2020)

Weekly population testing could stop this pandemic and prevent the next
por: Peto, Julian
Publicado: (2021)

Preparing for the next pandemic: It is more than just about numbers
por: Thacker, Paul G., et al.
Publicado: (2021)

Trends in high deductible health plan enrolment and spending among commercially insured members with and without chronic conditions: a Natural Experiment for Translation in Diabetes (NEXT-D2) Study
por: Garabedian, Laura F, et al.
Publicado: (2021)

What is the impact on the readmission ratio of taking into account readmissions to other hospitals? A cross-sectional study
por: Hekkert, Karin, et al.
Publicado: (2019)

Lessons learned from unsolicited findings in clinical exome sequencing of 16,482 individuals
por: van der Schoot, Vyne, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_319631a3f40avfphrk76onc3sr