RawData_NGS_FTLD

A targeted deep sequencing of 98 genes belonging to the lysosomal pathway, selected based on their high expression in multiple brain regions, was performed in 127 subjects (n=74 GRN mutation carriers and n=53 C9orf72 pathological expansion carriers). Sequencing reads were aligned versus the hg19 reference genome using bwa software (mem algorithm, 0.7.17-r1188). Subsequently, duplicated read marking has been performed using Picard and the single-nucleotide variant (SNV) and insertion/deletion (INDEL) calling have been carried out using the Haplotype Caller module of Genome Analysis Toolkit (GATK, version 4.1.8) software over the target region. The Single-Nucleotide Polymorphism Database (dbSNP; v151) was used as the variant reference database. A genomic variant call format (gVCF; version 4.1.8) has been created for each sample.

This research was funded by the Italian Ministry of Health, Italy, Ricerca Finalizzata, (grant RF-2016-02361492).