Article
Array genotyping as diagnostic approach in medical genetics.
Molecular genetics & genomic medicine - 1 Sept 2022
Witsch-Baumgartner Martina, Schwaninger Gunda, Schnaiter Simon, Kollmann Franziska, Burkhard Silja, Gröbner Rebekka, Mühlegger Beatrix, Schamschula Esther, Kirchmeier Peter, Zschocke Johannes
Abstract excerpt
Genotyping arrays are by far the most widely used genetic tests but are not generally utilized for diagnostic purposes in a medical context. In the present study, we examined the diagnostic value of a standard genotyping array (Illumina Global Screening Array) for a range of indications. Applications included stand-alone testing for specific variants (32 variants in 10 genes), first-tier array variant screening...
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