Internet Archive Scholar

GRID – Genomics of Rare Immune Disorders: a highly sensitive and specific diagnostic gene panel for patients with primary immunodeficiencies [article]

Ilenia Simeoni, Olga Shamardina, Sri VV Deevi, Moira Thomas, Karyn Megy, Emily Staples, Deborah Whitehorn, Daniel Duarte, Rutendo Mapeta, Willem H Ouwehand, Christopher J Penkett, Paula Rayner-Matthews (+12 others)
2018 bioRxiv   pre-print

Preserved Fulltext

fulltext thumbnail
Web Archive Capture PDF (2.0 MB)
https://web.archive.org/web/20200711163314/https://www.biorxiv.org/content/biorxiv/early/2019/01/14/431544.full.pdf

A copy of this work was available on the public web and has been preserved in the Wayback Machine. The capture dates from 2020; you can also visit the original URL. The file type is application/pdf.

AbstractPrimary Immune disorders affect 15,000 new patients every year in Europe. Genetic tests are usually performed on a single or very limited number of genes leaving the majority of patients without a genetic diagnosis. We designed, optimised and validated a new clinical diagnostic platform called GRID, Genomics of Rare Immune Disorders, to screen in parallel 279 genes, including 2015 IUIS genes, known to be causative of Primary Immune disorders (PID). Validation to clinical standard using
more » ... ore than 58,000 variants in 176 PID patients shows an excellent sensitivity, specificity. The customised and automated bioinformatics pipeline prioritises and reports pertinent Single Nucleotide Variants (SNVs), INsertions and DELetions (INDELs) as well as Copy Number Variants (CNVs). An example of the clinical utility of the GRID panel, is represented by a patient initially diagnosed with X-linked agammaglobulinemia due to a missense variant in the BTK gene with severe inflammatory bowel disease. GRID results identified two additional compound heterozygous variants in IL17RC, potentially driving the altered phenotype.
doi:10.1101/431544 fatcat:vnix7bc6xvdg7cjr3fjj2cq5qa
Citation

Ilenia Simeoni, Olga Shamardina, Sri VV Deevi, Moira Thomas, Karyn Megy, Emily Staples, Deborah Whitehorn, Daniel Duarte, Rutendo Mapeta, Willem H Ouwehand, Christopher J Penkett, Paula Rayner-Matthews, Hannah Stark, Jonathan C Stephens, Kathleen E Stirrups, Ernest Turro, Adrian Thrasher, Taco W Kuijpers, Kenneth GC Smith, Sinisa Savic, Siobhan O Burns, James E Thaventhiran, Hana Lango Allen, NIHR BioResource. "GRID – Genomics of Rare Immune Disorders: a highly sensitive and specific diagnostic gene panel for patients with primary immunodeficiencies." bioRxiv (2018)