Kombinace aCGH a SureSelect (NGS): robustní a citlivá genomická technika pro detekci idiopatických duševních postižení a opožděného vývoje

The clinical utility of array-CGH and targeted NGS in idiopathic intellectual disabilities and developmental delays: a case report of SCN2A p.Ala263Val

Marketa Wayhelova^1,2, Jan Oppelt^3,4, Denisa Vesela², Jan Smetana^1,2, Filip Pardy⁵, Hana Filkova¹, Dita Matuchova¹, Jana Soukalova¹, Renata Gaillyova¹, Petr Kuglik^1,2

¹ University Hospital, Department of Medical Genetics, Brno, Czech Republic, ²Faculty of Science, Department of Experimental Biology, Brno, Czech Republic; ³National Centre for Biomolecular Research, Faculty of Science, Masaryk University, Brno, Czech Republic, ⁴CEITEC-Central European Institute of Technology, Masaryk University, Brno, Czech Republic, ⁵Core Facility Genomics, CEITEC, Masaryk University, Brno, Czech Republic

Poster z ESHG 2017 ke stažení.