phs002391
De novo Origination Patterns of the Malaria-resistant, Sickle-cell-anemia-causing Hemoglobin S Mutation
Mutation Enrichment followed by upscaled Maximum Depth Sequencing (MEMDS) is a highly accurate method for detection of rare DNA variants in large samples that has sufficiently high accuracy, yield and sequencing depth to measure the de novo origination rates of target individual natural point mutations and indels at target base positions in applicable narrow genomic regions of interest (ROIs), such as the de novo origination rates of the human hemoglobin S (HbS) mutation and the human APOL1 1024A>G mutation in different populations, as described below. MEMDS is based on a combination of an upscaled, highly accurate barcode-based method for detecting rare DNA variants in large samples by ultra-deep sequencing of narrow regions (for the original method, see Jee, J. et al., 2016, PMID:... (for more see dbGaP study page.)