NextSeq 500 paired end sequencing; Targeted next-generation sequencing in children with intellectual disabilities, autism spectrum disorders and multiple congenital abnormalities
Targeted next-generation sequencing in children with intellectual disabilities, autism spectrum disorders and multiple congenital abnormalities
Patients were diagnosed with ID/DD, ASD and MCA at the Department of Medical Genetics, University Hospital Brno, Czech Republic. Patients' biological material (peripheral blood) was obtained after the signing the informed consent form (by their parents) following the requirments of The Czech Society of Medical Genetics and Genomics of the Czech Medical Association of J. E. Purkyne.  Genomic DNA was extracted from the lymphocytes of the peripheral blood using the MagNaPure system (Roche Ltd, Basel, Swiss) according to manufacturers protocol. Extracted gDNA was diluted in TE buffer and stored in -20C. SureSelectXT Target Enrichment System for Illumina Paired-End Multiplexed Sequencing Library (Agilent Technologies, Santa Clara, CA, USA)
Experimental Factor: disease
normal
Experimental Factor: family relationship
father_68