Schubach, Max

CADD-Splice—improving genome-wide variant effect prediction using deep learning-derived splice scores

Rentzsch, P., Schubach, M., Shendure, J., & Kircher, M. (2021) · Genome Medicine

Genomics and Rare DiseasesRNA Research and Splicing

Cited by 640

CADD v1.7: Using protein language models, regulatory CNNs and other nucleotide-level scores to improve genome-wide variant predictions

Schubach, M., Maass, T., Nazaretyan, L., Röner, S., & Kircher, M. (2024) · Nucleic Acids Research

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 455

Next-generation diagnostics and disease-gene discovery with the Exomiser

Smedley, D., Jacobsen, J. O. B., Jäger, M., Köhler, S., Holtgrewe, M., Schubach, M., Siragusa, E., Zemojtel, T., Buske, O. J., Washington, N. L., et al. (2015) · Nature Protocols

Genomics and Rare DiseasesBioinformatics and Genomic Networks

Cited by 445

A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease

Smedley, D., Schubach, M., Jacobsen, J. O. B., Köhler, S., Zemojtel, T., Spielmann, M., Jäger, M., Hochheiser, H., Washington, N. L., McMurry, J. A., et al. (2016) · The American Journal of Human Genetics

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 283

Saturation mutagenesis of twenty disease-associated regulatory elements at single base-pair resolution

Kircher, M., Xiong, C., Martin, B., Schubach, M., Inoue, F., Bell, R. J. A., Costello, J. F., Shendure, J., & Ahituv, N. (2019) · Nature Communications

Genomics and Chromatin DynamicsGenetic Associations and Epidemiology

Cited by 234

Massively parallel characterization of transcriptional regulatory elements

Agarwal, V., Inoue, F., Schubach, M., Penzar, D., Martin, B. K., Dash, P. M., Keukeleire, P., Zhang, Z., Sohota, A., Zhao, J., et al. (2025) · Nature

Genomics and Chromatin DynamicsChromatin Remodeling and Cancer

Cited by 146

Imbalance-Aware Machine Learning for Predicting Rare and Common Disease-Associated Non-Coding Variants

Schubach, M., Re, M., Robinson, P. N., & Valentini, G. (2017) · Scientific Reports

Genetic Associations and EpidemiologyGenomics and Rare Diseases

Cited by 97