lunes, 24 de junio de 2013

Genomics|Update|Current ► Genomic Tests


 Genomics and Health Impact Update with double helix

Bookmark and Share         Having trouble viewing this email? View it as a Web page

Genomic Tests

A comprehensive assay for CFTR mutational analysis using next-generation sequencingExternal Web Site Icon
Ahmad N. Abou Tayoun et al. Clin Chemistry, May 2013
Clinical utility gene card for: Tuberous sclerosis complex (TSC1, TSC2)External Web Site Icon
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 testingExternal Web Site Icon
Cushman-Vokoun AM, et al. Clin Colorectal Cancer 2013 Jun
Diagnostic yield of array comparative genomic hybridization in adults with autism spectrum disordersExternal Web Site Icon
Gary Stobbe et al. Genetics in Medicine, Jun 13
Next-generation carrier screeningExternal Web Site Icon
Mark A. Umbarger et al. Genetics in Medicine Jun 13
Quantifying single nucleotide variant detection sensitivity in exome sequencing Adobe PDF file [PDF 275.11 KB]External Web Site Icon
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 studyExternal Web Site Icon
Wei X, et al. Eur J Hum Genet 2013 Jun

No hay comentarios:

Publicar un comentario