title: WES_of_Hasti_Feizi
design: Hasti_Feizi_S1188_23S1188_23WES_of_Hasti_FeiziWXSGENOMICHybrid SelectionPAIREDILLUMINAIllumina NovaSeq 6000Genomic DNA was extracted from whole blood of an 11-year-old female (Hasti Feizi) with non-syndromic hearing loss, part of a Kurdish family cohort of 15 affected (14 prelingual, 1 postlingual) and 15 unaffected individuals, using a Genomic DNA Extraction Kit (Yekta Tajhiz, Iran). Whole-exome sequencing was performed with the Twist Human Core Exome Kit for target enrichment of exonic regions and 10 bp flanking sequences. The library was sequenced on an Illumina NovaSeq 6000 at CeGaT GmbH, Germany, achieving 394X raw coverage and 101X mean on-target coverage. Reads were aligned to GRCh37 using Burrows-Wheeler Aligner (BWA), with variant calling by GATK v2.6-4 and annotation via ANNOVAR. The MITF c.1180C>T variant was validated by PCR-RFLP with XhoI and Sanger sequencing in affected and unaffected family members.fastqS1188_23_R1.fastqS1188_23_R2.fastqGRCh37
library_name: S1188_23