Genomic Tests
A comprehensive assay for CFTR mutational analysis using next-generation sequencing
Ahmad N. Abou Tayoun et al. Clin Chemistry, May 2013
Clinical utility gene card for: Tuberous sclerosis complex (TSC1, TSC2)
Mayer K, et al. Eur J Hum Genet 2013 Jun
Clinical utility of KRAS and BRAF mutations in a cohort of patients with colorectal neoplasms submitted for microsatellite instability testing
Cushman-Vokoun AM, et al. Clin Colorectal Cancer 2013 Jun
Diagnostic yield of array comparative genomic hybridization in adults with autism spectrum disorders
Gary Stobbe et al. Genetics in Medicine, Jun 13
Next-generation carrier screening
Mark A. Umbarger et al. Genetics in Medicine Jun 13
Quantifying single nucleotide variant detection sensitivity in exome sequencing [PDF 275.11 KB]
Alison M Meynert et al. BMC Bioinformatics 2013, 14:195
Targeted next-generation sequencing as a comprehensive test for patients with and female carriers of DMD/BMD: a multi-population diagnostic study
Wei X, et al. Eur J Hum Genet 2013 Jun
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