Which genes to assess in the NGS diagnostics of intellectual disability? The case for a consensus database-driven and expert-curated approach.

Computational Biology / methods Consensus Data Curation Databases, Genetic Gene Regulatory Networks Genetic Predisposition to Disease High-Throughput Nucleotide Sequencing / methods Humans Intellectual Disability / genetics Sequence Analysis, DNA
Gene panel Human phenotype ontology Intellectual disability NGS Neurodevelopmental delay

Journal

Molecular and cellular probes
ISSN: 1096-1194
Titre abrégé: Mol Cell Probes
Pays: England
ID NLM: 8709751

Informations de publication

Date de publication:
06 2019
Historique:
received: 24 12 2018
revised: 13 03 2019
accepted: 21 03 2019
pubmed: 28 3 2019
medline: 30 4 2020
entrez: 28 3 2019
Statut: ppublish

Résumé

When deciding on which genes to assess in larger Next-Generation Sequencing (NGS) datasets for the molecular genetic diagnosis of intellectual disability (ID), geneticists today have a variety of gene-phenotype databases and expert-curated gene lists available. To quantify their respective completeness, we compare an ID gene selection auto-generated from the Human Phenotype Ontology gene-phenotype association database and expert-curated ID gene lists from three reputable sources (sysID, the DDD consortium and Genomics England) and analyse some of their differences. We give examples of what we regard as genuine gaps ("missing ID genes") for each of these and conclude that a complementary or consensus approach is needed to maximise diagnostic yield in ID patients. We propose several consensus gene lists with ID-associated genes of different confidence levels.

Identifiants

DOI: 10.1016/j.mcp.2019.03.006 PMID: 30914295
pubmed: 30914295
pii: S0890-8508(18)30328-1
doi: 10.1016/j.mcp.2019.03.006
pii:
doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

84-88

Informations de copyright

Copyright © 2019. Published by Elsevier Ltd.

Auteurs

Florian Erger (F)

Institute of Human Genetics, University Hospital Cologne, Kerpener Str. 34, 50931, Cologne, Germany; Center for Molecular Medicine Cologne, University of Cologne, Robert-Koch-Str. 21, 50931, Cologne, Germany; Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany. Electronic address: florian.erger@uk-koeln.de.

Christian P Schaaf (CP)

Institute of Human Genetics, University Hospital Cologne, Kerpener Str. 34, 50931, Cologne, Germany; Center for Molecular Medicine Cologne, University of Cologne, Robert-Koch-Str. 21, 50931, Cologne, Germany; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, 1250 Moursund Street, Houston, TX, 77030, USA; Baylor College of Medicine, Department of Molecular and Human Genetics, One Baylor Plaza, Houston, TX, 77030, USA.

Christian Netzer (C)

Institute of Human Genetics, University Hospital Cologne, Kerpener Str. 34, 50931, Cologne, Germany.

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Classifications MeSH

questionsmedicales.fr › Sciences de l'information › Informatique › Biologie informatique › Which genes to assess in the NGS diagnostics...
questionsmedicales.fr › Phénomènes psychologiques › Processus mentaux › Pensée (activité mentale) › Prise de décision › Consensus › Which genes to assess in the NGS diagnostics...
questionsmedicales.fr › Sciences de l'information › Sources d'information › Services d'information › Documentation › Curation de données › Which genes to assess in the NGS diagnostics...
questionsmedicales.fr › Sciences de l'information › Mémorisation et recherche des informations › Bases de données comme sujet › Bases de données factuelles › Bases de données génétiques › Which genes to assess in the NGS diagnostics...
questionsmedicales.fr › Phénomènes génétiques › Structures génétiques › Séquences d'acides nucléiques régulatrices › Réseaux de régulation génique › Which genes to assess in the NGS diagnostics...
questionsmedicales.fr › Phénomènes génétiques › Génotype › Prédisposition génétique à une maladie › Which genes to assess in the NGS diagnostics...
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Analyse de séquence › Séquençage nucléotidique à haut débit › Which genes to assess in the NGS diagnostics...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Which genes to assess in the NGS diagnostics...
questionsmedicales.fr › Troubles mentaux › Troubles du développement neurologique › Déficience intellectuelle › Which genes to assess in the NGS diagnostics...
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Analyse de séquence › Analyse de séquence d'ADN › Which genes to assess in the NGS diagnostics...