precisionFDA Truth Challenge V2: Calling variants from short- and long-reads in difficult-to-map regions
Nathan D. Olson, Justin Wagner, Jennifer McDaniel, Sarah H. Stephens, Samuel T. Westreich, Anish G. Prasanna, Elaine Johanson, Emily S. Boja, Ezekiel J. Maier, Omar Serang, David Jáspez, Jose Miguel Lorenzo-Salazar, Adrián Muñoz‐Barrera, Luis A. Rubio‐Rodríguez, Carlos Flores, , Justin M. Zook
The paper evaluates variant calling in difficult genomic regions using short- and long-read sequencing, showing improved performance with new methods and multi-technology approaches.
Cell Genomics · Apr 27, 2022Peer-reviewedBioinformatics