Published a study
Wagner J, Olson ND, Harris L, McDaniel J, Cheng H, Fungtammasan A, Hwang Y-C, Gupta R, Wenger AM, Rowell WJ, Khan ZM, Farek J, Zhu Y, Pisupati A, Mahmoud M, Xiao C, Yoo B, Sahraeian SME, Miller DE, Jáspez D, Lorenzo-Salazar JM, Muñoz-Barrera A, Rubio-Rodríguez LA, Flores C, Narzisi G, Evani US, Clarke WE, Lee J, Mason CE, Lincoln SE, Miga KH, Ebbert MWT, Shumate A, Li H, Chin C-S, Zook JM, Sedlazeck FJ. 2021. Towards a Comprehensive Variation Benchmark for Challenging Medically-Relevant Autosomal Genes. (preprint). bioRxiv. https://doi.org/10.1101/2021.06.07.444885