Genomic heterogeneity inflates the performance of variant pathogenicity predictions. bioRxiv. (2025-10-01 16:44:14)
P-KNN: Maximizing variant classification evidence through joint calibration of multiple pathogenicity prediction tools. bioRxiv. (2025-10-01 16:45:17)
Genome-wide prediction of disease variant effects with a deep protein language model. Nature Genetics. (2023-08-10 14:10:38)
ProteinBERT: a universal deep-learning model of protein sequence and function. Bioinformatics. (2022-03-15 14:11:41)
PWAS: proteome-wide association study—linking genes and phenotypes by functional variation in proteins. Genome Biology. (2020-07-14 14:12:26)
The language of proteins: NLP, machine learning & protein sequences. Computational and Structural Biotechnology. (2021-03-19 14:12:51)
Open problems in human trait genetics. Genome Biology. (2022-06-20 14:13:24)
Mitigation of chromosome loss in clinical CRISPR-Cas9-engineered T cells. Cell. (2023-10-12 14:14:32)
Genetic association studies of alterations in protein function expose recessive effects on cancer predisposition. Nature Scientific Reports. (2021-07-21 14:15:08)
Quantifying gene selection in cancer through protein functional alteration bias. Nucleic Acids Research. (2019-07-26 14:15:43)
