Raw Data Paper Variants RF2019

A targeted deep sequencing of 50 genes belonging to the immune system and inflammation, selected based on their high expression in brain regions and low tolerance to genetic variation was performed on a total of n = 380 subjects, comprising n = 150 sporadic AD, n = 150 sporadic FTLD, n = 40 GRN mutation carriers (n = 28 genetic FTLD and n = 12 pre-symptomatic subjects), and n = 40 C9orf72 intermediate/pathological expansion carriers (n = 38 genetic FTLD and n = 2 pre-symptomatic subjects). 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 4.3.0.0) software over the target region. The Single-Nucleotide Polymorphism Database (dbSNP; v150) was used as the variant reference database. Genetic variants with a minor allele frequency (MAF) > 0.01 in our dataset were selected for the analysis. This research was funded by the Italian Ministry of Health, Italy, Ricerca Finalizzata (Grant RF-2019-12369272). Users must clarify how they intend to use data here uploaded and whether the research protocol has been approved by an Ethics committee.