A5052828989- Genetic Associations and Epidemiology
- Pharmacogenetics and Drug Metabolism
- Innovative Microfluidic and Catalytic Techniques Innovation
- Evolution and Genetic Dynamics
- Bioinformatics and Genomic Networks
- Renal Transplantation Outcomes and Treatments
- Statistical Methods in Clinical Trials
- Genomics and Rare Diseases
University of Washington
2021-2025
Seattle University
2021-2025
Abstract Multiplexed assays of variant effect (MAVEs) are a critical tool for researchers and clinicians to understand genetic variants. Here we describe the 2024 update MaveDB ( https://www.mavedb.org/ ) with four key improvements MAVE community’s database record: more available data including over 7 million measurements, an improved model supporting such as saturation genome editing, new built-in exploration visualization tools, powerful APIs federation streamlined submission access....
Abstract A central problem in genomics is understanding the effect of individual DNA variants. Multiplexed Assays Variant Effect (MAVEs) can help address this challenge by measuring all possible single nucleotide variant effects a gene or regulatory sequence simultaneously. Here we describe MaveDB v2, which has become database record for MAVEs. now contains large fraction published studies, comprising over two hundred datasets and three million measurements. We created tools APIs to...
Abstract The Cytochrome P450s (CYPs) enzyme family metabolizes ∼80% of small molecule drugs. Variants in CYPs can substantially alter drug metabolism, leading to improper dosing and severe adverse reactions. Due low sequence conservation, predicting variant effects across is challenging. Even closely related like CYP2C9 CYP2C19, which share 92% amino acid identity, display distinct phenotypic properties. Using Variant Abundance by Massively Parallel sequencing (VAMP-seq), we measured the...
Abstract Cytochrome P450s (CYPs) are a family of enzymes responsible for metabolizing nearly 80% small molecule drugs. Variants in CYPs can substantially alter drug metabolism, which may result improper dosing and severe adverse reactions. have low sequence conservation, making it difficult to anticipate whether variant effects measured one CYP extend others based on alone. Even closely related CYPs, like CYP2C9 its closest homolog CYP2C19, distinct phenotypic properties despite sharing 92%...