A founder heterozygous MBD4 mutation prevalent among Israeli Christian Arabs predisposes to somatic mutagenesis
A founder heterozygous MBD4 mutation prevalent among Israeli Christian Arabs predisposes to somatic mutagenesis
we obtained fresh blood from donors identified as MBD4 mutation carriers dna was extracted from peripheral blood, using qiagen dna easy kit, per manufacture protocol.  Sample concentrations are normalized to 2nM and loaded onto an Illumina NovaSeq X Plus flow cell at a concentration that yields at least 2.5 B clusters of passing filter data per lane. The loading concentration for WES libraries has been optimized to maximize both well occupancy and unique read output while limiting duplicates associated with patterned flow cell technology. Samples are sequenced using 100 bp paired- end sequencing reads according to Illumina protocols. The 10bp indexes are read during additional sequencing reads that automatically follow the completion of read 1. Data generated during sequencing runs are simultaneously transferred to the YCGA high-performance computing cluster. A positive control (prepared bacteriophage Phi X library) provided by Illumina is spiked into every lane at a concentration of 1% to monitor sequencing quality in real time.