Universität zu Köln

Erger, Florian ORCID: 0000-0002-2768-1702, Schaaf, Christian P. and Netzer, Christian (2019). Which genes to assess in the NGS diagnostics of intellectual disability? The case for a consensus database-driven and expert-curated approach. Mol. Cell. Probes, 45. S. 84 - 89. LONDON: ACADEMIC PRESS LTD- ELSEVIER SCIENCE LTD. ISSN 0890-8508

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Abstract

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.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Erger, Florian UNSPECIFIED orcid.org/0000-0002-2768-1702 UNSPECIFIED Schaaf, Christian P. UNSPECIFIED UNSPECIFIED UNSPECIFIED Netzer, Christian UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-146367
DOI:	10.1016/j.mcp.2019.03.006
Journal or Publication Title:	Mol. Cell. Probes
Volume:	45
Page Range:	S. 84 - 89
Date:	2019
Publisher:	ACADEMIC PRESS LTD- ELSEVIER SCIENCE LTD
Place of Publication:	LONDON
ISSN:	0890-8508
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language SECONDARY FINDINGS; EXOME; GENETICS; GENOME; PREVALENCE; CHILDREN; PANEL Multiple languages Biochemical Research Methods; Biochemistry & Molecular Biology; Biotechnology & Applied Microbiology; Cell Biology Multiple languages
Refereed:	Yes
URI:	http://kups.ub.uni-koeln.de/id/eprint/14636