{"database":"EGA","file_versions":[],"scores":null,"additional":{"omics_type":["Genomics"],"dataset_type":["Illumina MiSeq;"],"full_dataset_link":["https://ega-archive.org/datasets/EGAD00001001319"],"sample_count":["5817"],"description":["EGA dataset EGAD00001001319"],"repository":["EGA"],"title":["Study to investigate the prevalence  of leukaemic mutations in whole blood DNA in a cohort of blood donors"],"pubmed_abstract":["Clonal hemopoiesis driven by leukemia-associated gene mutations can occur without evidence of a blood disorder. To investigate this phenomenon, we interrogated 15 mutation hot spots in blood DNA from 4,219 individuals using ultra-deep sequencing. Using only the hot spots studied, we identified clonal hemopoiesis in 0.8% of individuals under 60, rising to 19.5% of those ≥90 years, thus predicting that clonal hemopoiesis is much more prevalent than previously realized. DNMT3A-R882 mutations were most common and, although their prevalence increased with age, were found in individuals as young as 25 years. By contrast, mutations affecting spliceosome genes SF3B1 and SRSF2, closely associated with the myelodysplastic syndromes, were identified only in those aged >70 years, with several individuals harboring more than one such mutation. This indicates that spliceosome gene mutations drive clonal expansion under selection pressures particular to the aging hemopoietic system and explains the high incidence of clonal disorders associated with these mutations in advanced old age."],"pubmed_title":["Leukemia-associated somatic mutations drive distinct patterns of age-related clonal hemopoiesis."],"pubmed_authors":["McKerrell Thomas T, Park Naomi N, Moreno Thaidy T, Grove Carolyn S CS, Ponstingl Hannes H, Stephens Jonathan J, Crawley Charles C, Craig Jenny J, Scott Mike A MA, Hodkinson Clare C, Baxter Joanna J, Rad Roland R, Forsyth Duncan R DR, Quail Michael A MA, Zeggini Eleftheria E, Ouwehand Willem W, Varela Ignacio I, Vassiliou George S GS"],"additional_accession":[]},"is_claimable":false,"name":"EGAS00001000814-sc-20150331 - samples","description":"The aim of this study is to ascertain whether leukaemic mutations exist within the blood of people with otherwise normal haematopoeisis. To satisfy this aim we plan to look for 7 known leukaemic mutations  in the whole blood DNA of a large cohort of blood donors who have normal haematopoesis.  Genomic regions around mutational sites have been amplified using a 2 step PCR process which involves barcoding of individual patients","dates":{"updated":"2017-07-26 15:39:26"},"accession":"EGAD00001001319","cross_references":{"TAXONOMY":["9606"],"pubmed":["25732814"],"EGA":["EGAC00001000205","EGAS00001000814"]}}