Search Publications by: Nathan Dwarshuis (Fed)

Displaying 1 - 3 of 3

StratoMod: predicting sequencing and variant calling errors with interpretable machine learning

October 13, 2024

Author(s)

Nathan Dwarshuis, Nathanael Olson, Fritz Sedlazeck, Justin Wagner, Justin Zook

Despite the variety in sequencing platforms, mappers, and variant callers, no single pipeline is optimal across the entire human genome. Therefore, developers, clinicians, and researchers need to make tradeoffs when designing pipelines for their

Variant calling and benchmarking in an era of complete human genome sequences

April 14, 2023

Author(s)

Nathanael David Olson, Justin Wagner, Nathan Dwarshuis, Karen Miga, Marc L. Salit, Justin Zook

Genetic variant calling from DNA sequencing has enabled understanding of germline variation in hundreds of thousands of humans. Sequencing technologies and variant-calling methods have advanced rapidly, routinely providing reliable variant calls in most of