Jáspez, David

Curated variation benchmarks for challenging medically relevant autosomal genes

Wagner, J., Olson, N. D., Harris, L., McDaniel, J., Cheng, H., Fungtammasan, A., Hwang, Y.-C., Gupta, R., Wenger, A. M., Rowell, W. J., et al. (2022) · Nature Biotechnology

Genomics and Phylogenetic StudiesGenomics and Rare Diseases

Cited by 241

PrecisionFDA Truth Challenge V2: Calling variants from short and long reads in difficult-to-map regions

Olson, N. D., Wagner, J., McDaniel, J., Stephens, S. H., Westreich, S. T., Prasanna, A. G., Johanson, E., Boja, E., Maier, E. J., Serang, O., et al. (2022) · Cell Genomics

Genomics and Phylogenetic StudiesGenomics and Rare Diseases

Cited by 202

Evaluation of a whole‐exome sequencing pipeline and benchmarking of causal germline variant prioritizers

Tosco‐Herrera, E., Muñoz‐Barrera, A., Jáspez, D., Rubio‐Rodríguez, L. A., Mendoza‐Alvarez, A., Rodriguez‐Perez, H., Jou, J., Iñigo‐Campos, A., Corrales, A., Ciuffreda, L., et al. (2022) · Human Mutation

Genomics and Rare DiseasesGenomics and Phylogenetic Studies

Cited by 20