Familial Mastocytosis
The dataset consists of whole exome sequencing data from familial mastocytosis cases, including affected mastocytosis patients and their relatives. Genomic DNA was extracted from peripheral blood mononuclear cells (PBMC), quality-checked, and sequenced on Illumina NovaSeq 6000. The aim of the study was to identify germline variants involved in familial mastocytosis. The identified variants and gene candidates represent new research grounds for both familial and sporadic mastocytosis.