sequence of TMPRSS6
Genomic DNA was extracted using the QIAamp DNA Blood Mini Kit according to the manufacturers instructions. The DNA sample was quantified by Qubit dsDNA BR Assay kit, and DNA integrity was assessed by agarose gel electrophoresis. DNA was sheared on the Covaris M220 focused ultrasonicator. All libraries were prepared using the KAPA HTP Library Preparation Kit according to the manufactures instruction. Fragmented DNA was repaired, 3' dA-tailed, ligated with Illumina adapters, size selected, amplified, and assessed using the Agilent 2100 Bioanalyzer.For a targeted capture library of SNV analysis, a customized panel of biotinylated oligoprobes (Roche NimbleGen) was designed to capture the CDS regions of 600 genes associated with Hematologic Diseases. The capture experiment was conducted according to the manufacturers protocol as described. The captured DNA library was finally amplified and sequenced on Illumina Novoseq 6000 sequencer for paired reads at 150 bp.