Title: Genome-wide arrays: Quality criteria and platforms to be used in routine diagnostics
Authors: Vermeesch, Joris ×
Brady, Paul
Sanlaville, Damien
Kok, Klaas
Hastings, Rosalind J #
Issue Date: Jun-2012
Publisher: John Wiley & Sons, Inc.
Series Title: Human Mutation vol:33 issue:6 pages:906-915
Article number: 10.1002/humu.22076
Abstract: Whole genome analysis using genome-wide arrays, also called 'genomic arrays', 'microarrays' or 'arrays', has become the first-tier diagnostic test for patients with developmental abnormalities and/or intellectual disabilities. In addition to constitutional anomalies, genomic arrays are also used to diagnose acquired disorders. Despite the rapid implementation of these technologies in diagnostic laboratories, external quality control schemes (such as CEQA, EMQN, UK NEQAS for Clinical Cytogenetics, and the USA QA scheme CAP) and inter-laboratory comparisons show that there are huge differences in quality, interpretation and reporting amongst laboratories. We offer guidance to laboratories to help assure the quality of array experiments, to standardise minimum detection resolution, and we provide guidelines to standardise interpretation and reporting.
ISSN: 1059-7794
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
Laboratory for Cytogenetics and Genome Research
× corresponding author
# (joint) last author

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