Kabir M, Ahmed S, Zhang H, Rodriguez-Rodriguez I, Najibi S, Vihinen M
Int J Mol Sci. 2025; 26(5).
PMID: 40076632
PMC: 11899954.
DOI: 10.3390/ijms26052004.
Das S, Patel V, Chakravarty S, Ghosh A, Mukhopadhyay A, Biswas N
BioData Min. 2025; 18(1):7.
PMID: 39833905
PMC: 11744934.
DOI: 10.1186/s13040-024-00420-x.
Manning L, Eager K, Willet C, Slattery S, McNally J, Spiers Z
Animals (Basel). 2025; 14(24.
PMID: 39765607
PMC: 11672719.
DOI: 10.3390/ani14243703.
Boeykens F, Abitbol M, Anderson H, Casselman I, de Citres C, Hayward J
Front Vet Sci. 2024; 11:1497817.
PMID: 39703406
PMC: 11656590.
DOI: 10.3389/fvets.2024.1497817.
Yari A, Vafaeie F, Miri Karam Z, Hosseini M, Miri-Moghaddam E
Neurol Sci. 2024; .
PMID: 39661309
DOI: 10.1007/s10072-024-07892-z.
AI-derived comparative assessment of the performance of pathogenicity prediction tools on missense variants of breast cancer genes.
Ahmad R, Ali B, Al-Jasmi F, Al Dhaheri N, Al Turki S, Kizhakkedath P
Hum Genomics. 2024; 18(1):99.
PMID: 39256852
PMC: 11389290.
DOI: 10.1186/s40246-024-00667-9.
Variant Impact Predictor database (VIPdb), version 2: trends from three decades of genetic variant impact predictors.
Lin Y, Menon A, Hu Z, Brenner S
Hum Genomics. 2024; 18(1):90.
PMID: 39198917
PMC: 11360829.
DOI: 10.1186/s40246-024-00663-z.
Variant Impact Predictor database (VIPdb), version 2: Trends from 25 years of genetic variant impact predictors.
Lin Y, Menon A, Hu Z, Brenner S
bioRxiv. 2024; .
PMID: 38979289
PMC: 11230257.
DOI: 10.1101/2024.06.25.600283.
PHACTboost: A Phylogeny-Aware Pathogenicity Predictor for Missense Mutations via Boosting.
Dereli O, Kuru N, Akkoyun E, Bircan A, Tastan O, Adebali O
Mol Biol Evol. 2024; 41(7).
PMID: 38934805
PMC: 11251492.
DOI: 10.1093/molbev/msae136.
Characterization of a novel TFG variant causing autosomal recessive pure hereditary spastic paraplegia.
Hsiao C, Tsai T, Shen T, Tsai Y, Liao Y, Lee Y
Ann Clin Transl Neurol. 2024; 11(7):1909-1920.
PMID: 38837630
PMC: 11251477.
DOI: 10.1002/acn3.52113.
APF2: an improved ensemble method for pharmacogenomic variant effect prediction.
Zhou Y, Pirmann S, Lauschke V
Pharmacogenomics J. 2024; 24(3):17.
PMID: 38802404
PMC: 11129946.
DOI: 10.1038/s41397-024-00338-x.
Haploinsufficiency underlies the neurodevelopmental consequences of SLC6A1 variants.
Silva D, Trinidad M, Ljungdahl A, Revalde J, Berguig G, Wallace W
Am J Hum Genet. 2024; 111(6):1222-1238.
PMID: 38781976
PMC: 11179425.
DOI: 10.1016/j.ajhg.2024.04.021.
Protein-folding chaperones predict structure-function relationships and cancer risk in BRCA1 mutation carriers.
Gracia B, Montes P, Gutierrez A, Arun B, Karras G
Cell Rep. 2024; 43(2):113803.
PMID: 38368609
PMC: 10941025.
DOI: 10.1016/j.celrep.2024.113803.
MAGPIE: accurate pathogenic prediction for multiple variant types using machine learning approach.
Liu Y, Zhang T, You N, Wu S, Shen N
Genome Med. 2024; 16(1):3.
PMID: 38185709
PMC: 10773112.
DOI: 10.1186/s13073-023-01274-4.
Predicting the Impact of OTOF Gene Missense Variants on Auditory Neuropathy Spectrum Disorder.
Dmitriev D, Shilov B, Polunin M, Zadorozhny A, Lagunin A
Int J Mol Sci. 2023; 24(24).
PMID: 38139069
PMC: 10743402.
DOI: 10.3390/ijms242417240.
ProteinGym: Large-Scale Benchmarks for Protein Design and Fitness Prediction.
Notin P, Kollasch A, Ritter D, van Niekerk L, Paul S, Spinner H
bioRxiv. 2023; .
PMID: 38106144
PMC: 10723403.
DOI: 10.1101/2023.12.07.570727.
SARS-CoV-2 infection activating a novel variant of the gene and subsequently causing development of CADASIL.
Krol Z, Dorobek M, Dabrowski M, Zielinska-Turek J, Mruk B, Walecki J
Arch Med Sci. 2023; 19(6):1781-1794.
PMID: 38058732
PMC: 10696999.
DOI: 10.5114/aoms/146978.
MMPatho: Leveraging Multilevel Consensus and Evolutionary Information for Enhanced Missense Mutation Pathogenic Prediction.
Ge F, Arif M, Yan Z, Alahmadi H, Worachartcheewan A, Yu D
J Chem Inf Model. 2023; 63(22):7239-7257.
PMID: 37947586
PMC: 10685454.
DOI: 10.1021/acs.jcim.3c00950.
Network-based prediction approach for cancer-specific driver missense mutations using a graph neural network.
Hatano N, Kamada M, Kojima R, Okuno Y
BMC Bioinformatics. 2023; 24(1):383.
PMID: 37817080
PMC: 10565986.
DOI: 10.1186/s12859-023-05507-6.
Prediction of pathogenic single amino acid substitutions using molecular fragment descriptors.
Zadorozhny A, Smirnov A, Filimonov D, Lagunin A
Bioinformatics. 2023; 39(8).
PMID: 37535750
PMC: 10435372.
DOI: 10.1093/bioinformatics/btad484.