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Development of a human genetics-guided priority score for 19,365 genes and 399 drug indications

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Genomics of drug target prioritization for complex diseases

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Prevalence of loss-of-function, gain-of-function and dominant-negative mechanisms across genetic disease phenotypes

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Innovation in cancer pharmacotherapy through integrative consideration of germline and tumor genomes

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PreMode predicts mode-of-action of missense variants by deep graph representation learning of protein sequence and structural context

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Expanding drug targets for 112 chronic diseases using a machine learning-assisted genetic priority score

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Dominant negative ADA2 mutations cause ADA2 deficiency in heterozygous carriers

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Receptor Pharmacogenomics: Deciphering Genetic Influence on Drug Response

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Classification of GBA1 variants and their impact on Parkinson’s disease: an in silico score analysis

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IRS2 Signaling Protects Against Stress-Induced Arrhythmia by Maintaining Ca 2+ Homeostasis

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Expanding the utility of variant effect predictions with phenotype-specific models

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Exploring the association between familial hemiplegic migraine genes ( CACNA1A , ATP1A2 and SCN1A ) with migraine and epilepsy: A UK Biobank exome-wide association study

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Monoallelic loss-of-function variants in GSK3B lead to autism and developmental delay

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GoFCards: an integrated database and analytic platform for gain of function variants in humans

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ESM-Effect: An Effective and Efficient Fine-Tuning Framework towards accurate prediction of Mutation’s Functional EffectPreprint

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A power-based sliding window approach to evaluate the clinical impact of rare genetic variants in the nucleotide sequence or the spatial position of the folded protein

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DescribePROT Database of Residue-Level Protein Structure and Function Annotations

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Phenotypic pleiotropy of missense variants in human B cell confinement receptor P2RY8

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Genetic evidence informs the direction of therapeutic modulation in drug development

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Interpreting the functional impact of genetic variants: The need for context qualifiers

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Evaluation of enzyme activity predictions for variants of unknown significance in Arylsulfatase A

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Leveraging large-scale multi-omics to identify therapeutic targets from genome-wide association studiesPreprint

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Exploring the unique characteristics of genes with dual autosomal dominant and recessive inheritance: mechanisms, phenotypes and candidate identification

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Prediction of human missense variant effects from functional evidence

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Computational investigation of missense somatic mutations in cancer and potential links to pH-dependence and proteostasis

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Evolutionary history of calcium-sensing receptors unveils hyper/hypocalcemia-causing mutations

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A power-based sliding window approach to evaluate the clinical impact of rare genetic variantsPreprint

Cirulli, E. T., Barrett, K. M. S., Bolze, A., Grzymski, J. J., Lee, W., & Washington, N. L. (2022) · medRxiv · doi:10.1101/2022.07.29.22278171 · Cited by 3 · see citing works

Deep Mutational Scanning in Disease-related Genes with Saturation Mutagenesis-Reinforced Functional Assays (SMuRF)Preprint

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Acute Cold Exposure in Humans Shifts the Circulating Proteome to a Cardioprotective and Anti-Aging ProfilePreprint

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Possible Founder Effect of Glycine Encephalopathy: Evidence of a GLDC c. 2714T >G (p. Val905Gly ) Common Variant in the Paisa Community Based in Cali, Colombia

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In silico and biological analyses of missense variants of the human biliary efflux transporter ABCC2: effects of novel rare missense variants

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Proteome-wide prediction of the mode of inheritance and molecular mechanisms underlying genetic diseases using structural interactomics

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TARGET-SL: precision essential gene prediction using driver prioritisation and synthetic lethality

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Functional assays in Drosophila facilitate classification of variants of uncertain significance associated with rare diseasesPreprint

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Bridging structure and function: artificial intelligence-based modelling of kidney proteins

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From variants to answers: The evolution of genetic counseling in IEI

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Actually, what is a gain-of-function mutation?

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Examining Genetic Variants Associated with FOXP1 Syndrome through Molecular Dynamics of Its DNA-Binding Domain and Self-Organizing Maps

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Prediction of Gain or Loss of Function in Missense Variants

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Learning sequence to predict gain- or loss-of-function variantsPreprint

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Phenome-wide association study of monogenic inflammatory bowel disease genes in diverse biobanks identifies population-specific and shared Goldilocks alleles: implications for Precision Medicine

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Identification of a novel de novo AFF4 variant (c.778A>G) associated with CHOPS syndrome

Deng, X., Zhao, L., Chen, M., Qin, X., Xu, H., Wang, J., Deng, H., & Yuan, L. (2025) · Intractable & Rare Diseases Research · doi:10.5582/irdr.2025.01041

Framework for combined functional and computational assessment of variant pathogenicity in the sodium leak channel NALCNPreprint

Weidling, C., Harms, H., Ameen, A. O., Panfilova, A., Gloystein, T., Stein, A., Chua, H. C., & Pless, S. A. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2025.09.15.676065

Functional effect predictions for ion channel missense variants using a protein language model

Gies, S., Alishbayli, A., Tiesinga, P. H. E., & Martens, M. B. (2026) · Journal of Human Genetics · doi:10.1038/s10038-026-01484-9

Decoding missense variants pleiotropy in the immune GPCR P2RY8

Shen, S., Luo, R., & Shao, Z. (2025) · Cell Genomics · doi:10.1016/j.xgen.2025.101063

Accurate prediction of gain- and loss-of-function variants in GABA A receptorsPreprint

Boßelmann, C. M., Ortiz, S., Dahl, R. S., Liao, V. W. Y., El‐Kamand, S., Lin, S. X. N., Kan, A. S. H., Brünger, T., Lal, D., Lerche, H., et al. (2025) · medRxiv · doi:10.64898/2025.12.03.25341551

Identification of Clinical Significance of Genetic Variants Using LightGBM Blended with Attention Mechanism

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DeeprankCDM: A Deep learning Based Rank Aggregation Method for Ranking Mutations in Cancer Driver Gene based on Pathogenicity

Das, S. K., Chakravarty, S., Singh, A. K., Mukherjee, A., Mukhopadhyay, A., & Biswas, N. K. (2025) · International Conference on Research in Computational Intelligence and Communication Networks (ICRCICN) · doi:10.1109/icrcicn68210.2025.11364844

Association of HBB Gene Polymorphisms rs10768683, rs1609812 and rs334 with Transfusion-Dependent Beta-Thalassemia (TDT): A Case-Control StudyPreprint

Piroozan, Y., Arabshahi, A., Akbar-Abad, M. S., Majidpour, M., Pazouki, M. M., Shahriari, H., Naderi, M., Abbasi‐Malati, Z., & Azizi, S. G. (2026) · Research Square · doi:10.21203/rs.3.rs-9820820/v1

GLOF: A large-scale expert-curated benchmark dataset of gain-of-function and loss-of-function missense variantsPreprint

Maricato, V., Schlesinger, D., & Moura, P. (2026) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.64898/2026.06.05.729843

Saturation-seq integrates single-cell saturation genome editing and RNA-seq to quantify NFE2L2 (NRF2) variant effectsPreprint

Strauß, M. E., Waters, A. J., Roberston, H., Brendler-Spaeth, T., Gontarczyk, A. M., Gupta, P., Kataria, S., Gitterman, D. P., Ntereke, T., Wells, L., et al. (2026) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.64898/2026.06.30.735631

Accurate prediction of gain- and loss-of-function missense variants in GABAA receptors

Boßelmann, C. M., Ortiz, S., Dahl, R. S., Liao, V. W. Y., El‐Kamand, S., Lin, S. X. N., Kan, A. S. H., Brünger, T., Lal, D., Lerche, H., et al. (2026) · EBioMedicine · doi:10.1016/j.ebiom.2026.106417

Additional file 2 of Genome-wide prediction of pathogenic gain- and loss-of-function variants from ensemble learning of a diverse feature set

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Identification of discriminative gene-level and protein-level features associated with pathogenic gain-of-function and loss-of-function variants

Bayrak, Ç. S., Stein, D. F., Jain, A., Chaudhary, K., Nadkarni, G. N., Vleck, T. T. V., Puel, A., Boisson‐Dupuis, S., Okada, S., Stenson, P. D., et al. (2021) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2021.10.007 · Cited by 55 · see citing works

VPatho: a deep learning-based two-stage approach for accurate prediction of gain-of-function and loss-of-function variants

Ge, F., Li, C., Iqbal, S., Arif, M., Li, F., Thafar, M. A., Yan, Z., Worachartcheewan, A., Xu, X., Song, J., et al. (2022) · Briefings in Bioinformatics · doi:10.1093/bib/bbac535 · Cited by 24 · see citing works

GLOF: A large-scale expert-curated benchmark dataset of gain-of-function and loss-of-function missense variantsPreprint

Maricato, V., Schlesinger, D., & Moura, P. (2026) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.64898/2026.06.05.729843

When loss-of-function is loss of function: assessing mutational signatures and impact of loss-of-function genetic variants

Pagel, K. A., Pejaver, V. R., Lin, G. N., Nam, H.-J., Mort, M. E., Cooper, D. N., Sebat, J. L., Iakoucheva, L. M., Mooney, S. D., & Predrag Radivojac, A. (2017) · Bioinformatics · doi:10.1093/bioinformatics/btx272 · Cited by 88 · see citing works