Scholars@Duke
Dayne Filer

Featured Works

Noninvasive prenatal exome sequencing diagnostic utility limited by sequencing depth and fetal fraction.

Journal article Prenatal diagnosis · May 2022 Featured Publication ObjectiveSequencing cell-free DNA now allows detection of large chromosomal abnormalities and dominant Mendelian disorders in the prenatal period. Improving upon these methods would allow newborn screening programs to begin with prenatal genetics, ... Full text Cite

On the Utility of ToxCast-Based Predictive Models to Evaluate Potential Metabolic Disruption by Environmental Chemicals.

Journal article Environmental health perspectives · May 2022 Featured Publication BackgroundResearch suggests environmental contaminants can impact metabolic health; however, high costs prohibit in vivo screening of putative metabolic disruptors. High-throughput screening programs, such as ToxCast, hold promise to reduce ... Full text Cite

Pre-capture multiplexing provides additional power to detect copy number variation in exome sequencing.

Journal article BMC bioinformatics · July 2021 Featured Publication BackgroundAs exome sequencing (ES) integrates into clinical practice, we should make every effort to utilize all information generated. Copy-number variation can lead to Mendelian disorders, but small copy-number variants (CNVs) often get overlook ... Full text Cite

tcpl: the ToxCast pipeline for high-throughput screening data.

Journal article Bioinformatics (Oxford, England) · February 2017 Featured Publication MotivationLarge high-throughput screening (HTS) efforts are widely used in drug development and chemical toxicity screening. Wide use and integration of these data can benefit from an efficient, transparent and reproducible data pipeline. Summary: ... Full text Cite