WES of patient-4: peripheral blood with SORD mutation
Qualified DNA samples were fragmented into 200~300 bp. DNA libraries were prepared with KAPA Library Preparation Kit (Kapa Biosystems, KR0453) following the manufacturers instructions. The procedure comprises three standard steps: end-repair of fragmented DNA, A-tailing, adapter ligation and amplification. Purifications between steps were carried out with Agencourt AMPure XP beads. The libraries were estimated with Qubit dsDNA HS Assay kit (Invitrogen, Q32851).