A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers.

Exome Genetic Testing Genome, Human / genetics High-Throughput Nucleotide Sequencing / trends Humans Rare Diseases / diagnosis Sequence Analysis, DNA / methods Translational Research, Biomedical / methods Exome Sequencing / methods

Journal

Cell
ISSN: 1097-4172
Titre abrégé: Cell
Pays: United States
ID NLM: 0413066

Informations de publication

Date de publication:
21 03 2019
Historique:
entrez: 23 3 2019
pubmed: 23 3 2019
medline: 14 2 2020
Statut: ppublish

Résumé

The introduction of exome sequencing in the clinic has sparked tremendous optimism for the future of rare disease diagnosis, and there is exciting opportunity to further leverage these advances. To provide diagnostic clarity to all of these patients, however, there is a critical need for the field to develop and implement strategies to understand the mechanisms underlying all rare diseases and translate these to clinical care.

Identifiants

DOI: 10.1016/j.cell.2019.02.040 PMID: 30901545
pubmed: 30901545
pii: S0092-8674(19)30223-5
doi: 10.1016/j.cell.2019.02.040
pii:
doi:

Types de publication

Journal Article Research Support, N.I.H., Extramural Research Support, N.I.H., Intramural Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, Non-P.H.S.

Langues

eng

Sous-ensembles de citation

IM

Pagination

32-37

Subventions

Organisme : CIHR
ID : FDN-154279
Pays : Canada
Organisme : NIDCR NIH HHS
ID : U01 DE024427
Pays : United States
Organisme : NHGRI NIH HHS
ID : UM1 HG009421
Pays : United States
Organisme : NHLBI NIH HHS
ID : R24 HL123879
Pays : United States
Organisme : NHLBI NIH HHS
ID : UM1 HL098166
Pays : United States

Informations de copyright

Copyright © 2019 Elsevier Inc. All rights reserved.

Auteurs

Kym M Boycott (KM)

Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada. Electronic address: kboycott@cheo.on.ca.

Taila Hartley (T)

Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.

Leslie G Biesecker (LG)

Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, Bethesda, MD, USA.

Richard A Gibbs (RA)

Human Genome Sequencing Center, Department of Human and Molecular Genetics, Baylor College of Medicine, Houston, TX, USA.

A Micheil Innes (AM)

Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.

Olaf Riess (O)

Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.

John Belmont (J)

Illumina, Madison, WI, USA; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, Bethesda, MD, USA.

Sally L Dunwoodie (SL)

Victor Chang Cardiac Research Institute, Faculty of Medicine, University of New South Wales, Sydney, NSW, Australia.

Nebojsa Jojic (N)

Microsoft Research, Seattle, Washington, USA.

Timo Lassmann (T)

Telethon Kids Institute, University of Western Australia, Nedlands, WA, Australia.

Deborah Mackay (D)

Department of Human Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton, Southampton, Hampshire, UK.

I Karen Temple (IK)

Department of Human Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton, Southampton, Hampshire, UK.

Axel Visel (A)

Environmental Genomics and Systems Biology Division, Lawrence Berkeley National Laboratory, CA, USA; DOE Joint Genome Institute, CA, USA; The University of California at Merced, CA, USA.

Gareth Baynam (G)

Faculty of Health and Medical Sciences, University of Western Australia Medical School, Perth, WA, Australia; Western Australian Register of Developmental Anomalies, Genetic Services of Western Australia, Perth, WA, Australia; Office of Population Health Genomics, Western Australian Department of Health, Perth, WA, Australia.

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Classifications MeSH

questionsmedicales.fr › Phénomènes génétiques › Structures génétiques › Génome › Exome › A Diagnosis for All Rare Genetic Diseases: The...
questionsmedicales.fr › Établissements, main d'oeuvre et services de soins de santé › Services de santé › Services de médecine préventive › Services de diagnostic › Dépistage génétique › A Diagnosis for All Rare Genetic Diseases: The...
questionsmedicales.fr › Phénomènes génétiques › Structures génétiques › Génome › Génome humain › A Diagnosis for All Rare Genetic Diseases: The...
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Analyse de séquence › Séquençage nucléotidique à haut débit › A Diagnosis for All Rare Genetic Diseases: The...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › A Diagnosis for All Rare Genetic Diseases: The...
questionsmedicales.fr › États, signes et symptômes pathologiques › Processus pathologiques › Caractéristiques de la maladie › Maladies rares › A Diagnosis for All Rare Genetic Diseases: The...
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Analyse de séquence › Analyse de séquence d'ADN › A Diagnosis for All Rare Genetic Diseases: The...
questionsmedicales.fr › Disciplines des sciences naturelles › Science › Recherche › Recherche biomédicale › Recherche médicale translationnelle › A Diagnosis for All Rare Genetic Diseases: The...
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Analyse de séquence › Analyse de séquence d'ADN › Séquençage du génome entier › Séquençage de l'exome › A Diagnosis for All Rare Genetic Diseases: The...