HIGHLIGHTS
- who: Gau00eblle Odelin from the Whole exome sequencing Genomic DNA was extracted by standard techniquesExome sequencing was performed using the Twist Comprehensive exome (, Mb) kit according to the manufacturer`s protocol (Twist Bioscience). Pairedend, bp reads from the DNA libraries were sequenced using Illumina NextSeq , platform (Illumina). Raw fastQ files were aligned to the hg, reference human genome (University of California Santa Cruz, UCSC) using the Maximum Exact Matches algorithm in BurrowsWheeler Aligner (BWA) software. Alignment quality was evaluated using Qualimap, .2.2. Variant calling and annotation were performed using GATK and ANNOVAR best practices, respectively. Variant . . .
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