A5011270949- Chromosomal and Genetic Variations
- Genomic variations and chromosomal abnormalities
- Prenatal Screening and Diagnostics
- Advanced biosensing and bioanalysis techniques
Yale Cancer Center
2022
University of California, Berkeley
2021
Abstract The inability to interpret the functional impact of non-coding variants has been a major impediment in promise precision medicine. While high-throughput experimental approaches such as Massively Parallel Reporter Assays (MPRAs) have made progress identifying causal and their underlying molecular mechanisms, these tools cannot exhaustively measure variant effects genome-wide. Here we present MPAC, an ensemble machine-learning models trained on MPRA data that provides accurate...
Abstract Retrotransposons mediate gene regulation in multiple developmental and pathological processes. Here, we characterized the transient retrotransposon induction preimplantation development of eight mammalian species. While species-specific sequences, induced retrotransposons exhibit a similar profile, conferring regulatory activities particularly through LTR promoters. We investigated mouse-specific MT2B2 promoter, which generates an N-terminally truncated, preimplantation-specific...