Single cell colony whole genome sequencing data from individuals with telomere syndromes

This is an observational study which examined the phylogenetic evolution of somatic clonal mutations in individuals with Mendelian telomere syndromes. It includes data from two individuals who carry a heterozygous germline POT1 variant, 5 individuals with heterozygous germline mutations in telomerase (TERT or TERC) and one healthy control with normal telomere length. Single cell hematopoietic colonies were derived from peripheral blood mononuclear isolates. These colonies were analyzed by whole genome sequencing (WGS) and phylogenetic trees were reconstructed accordingly. Phylogenetic reconstruction of somatic mutations show early acquisition of somatic mutations in individuals with telomere syndromes, such as DNMT3A and JAK2 mutations in POT1 mutation carriers and TERT promoter... (for more see dbGaP study page.)