Bayesian modelling of high-throughput sequencing assays with malacoda.

ABSTRACT: NGS studies have uncovered an ever-growing catalog of human variation while leaving an enormous gap between observed variation and experimental characterization of variant function. High-throughput screens powered by NGS have greatly increased the rate of variant functionalization, but the development of comprehensive statistical methods to analyze screen data has lagged. In the massively parallel reporter assay (MPRA), short barcodes are counted by sequencing DNA libraries transfected into cells and the cell's output RNA in order to simultaneously measure the shifts in transcription induced by thousands of genetic variants. These counts present many statistical challenges, including overdispersion, depth dependence, and uncertain DNA concentrations. So far, the statistical methods used ha

SUBMITTER: Ghazi AR 

PROVIDER: S-EPMC7394446 | biostudies-literature | 2020 Jul

REPOSITORIES: biostudies-literature