WES of patient with ALS
DNA ExtractionGenomic DNA was extracted from peripheral blood samples of the two affected and two unaffected family members using DNA Isolation Kit (Bioteke, China, AU1802). Concentrations were determined on a Qubit fluorometer (Invitrogen, Q33216) using Qubit dsDNA HS Assay Kit (Invitrogen, Q32851). Agarose gel (1%) electrophoresis was performed for quality control. A total amount of 1g DNA per sample was required for sequencing library generation.Library PreparationQualified DNA samples were fragmented into 200~300 bp. DNA libraries were prepared with KAPA Library Preparation Kit (Kapa Biosystems, KR0453) following the manufacturers instructions.