Max Schubach

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

Philipp Rentzsch, Max Schubach, Jay Shendure et al. · Genome Medicine · 2021 · 648 citations · Full text

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

Damian Smedley, Julius O.B. Jacobsen, Marten Jäger et al. · Nature Protocols · 2015 · 435 citations · Full text

Disease-gene Discovery, Functional Genomics, Engineering +8

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

Catherine A. Brownstein, Alan H. Beggs, Nils Homer et al. · Genome biology · 2014 · 432 citations · Full text

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

Max Schubach, Lusiné Nazaretyan, Sebastian Röner et al. · Nucleic Acids Research · 2024 · 323 citations · Full text

Genetics, Genetic Epidemiology, Protein Language Models +18

Targeted next generation sequencing as a diagnostic tool in epileptic disorders

Johannes R. Lemke, Erik Riesch, Tim Scheurenbrand et al. · Epilepsia · 2012 · 321 citations · Full text