225 related articles for article (PubMed ID: 32183714)
1. Variant effect predictions capture some aspects of deep mutational scanning experiments.
Reeb J; Wirth T; Rost B
BMC Bioinformatics; 2020 Mar; 21(1):107. PubMed ID: 32183714
[TBL] [Abstract][Full Text] [Related]
2. Using deep mutational scanning to benchmark variant effect predictors and identify disease mutations.
Livesey BJ; Marsh JA
Mol Syst Biol; 2020 Jul; 16(7):e9380. PubMed ID: 32627955
[TBL] [Abstract][Full Text] [Related]
3. Embeddings from protein language models predict conservation and variant effects.
Marquet C; Heinzinger M; Olenyi T; Dallago C; Erckert K; Bernhofer M; Nechaev D; Rost B
Hum Genet; 2022 Oct; 141(10):1629-1647. PubMed ID: 34967936
[TBL] [Abstract][Full Text] [Related]
4. Performance of in silico prediction tools for the classification of rare BRCA1/2 missense variants in clinical diagnostics.
Ernst C; Hahnen E; Engel C; Nothnagel M; Weber J; Schmutzler RK; Hauke J
BMC Med Genomics; 2018 Mar; 11(1):35. PubMed ID: 29580235
[TBL] [Abstract][Full Text] [Related]
5. Using SIFT and PolyPhen to predict loss-of-function and gain-of-function mutations.
Flanagan SE; Patch AM; Ellard S
Genet Test Mol Biomarkers; 2010 Aug; 14(4):533-7. PubMed ID: 20642364
[TBL] [Abstract][Full Text] [Related]
6. Cross-protein transfer learning substantially improves disease variant prediction.
Jagota M; Ye C; Albors C; Rastogi R; Koehl A; Ioannidis N; Song YS
Genome Biol; 2023 Aug; 24(1):182. PubMed ID: 37550700
[TBL] [Abstract][Full Text] [Related]
7. Common sequence variants affect molecular function more than rare variants?
Mahlich Y; Reeb J; Hecht M; Schelling M; De Beer TAP; Bromberg Y; Rost B
Sci Rep; 2017 May; 7(1):1608. PubMed ID: 28487536
[TBL] [Abstract][Full Text] [Related]
8. Flattening the curve-How to get better results with small deep-mutational-scanning datasets.
Wirnsberger G; Pritišanac I; Oberdorfer G; Gruber K
Proteins; 2024 Jul; 92(7):886-902. PubMed ID: 38501649
[TBL] [Abstract][Full Text] [Related]
9. Collective judgment predicts disease-associated single nucleotide variants.
Capriotti E; Altman RB; Bromberg Y
BMC Genomics; 2013; 14 Suppl 3(Suppl 3):S2. PubMed ID: 23819846
[TBL] [Abstract][Full Text] [Related]
10. CoDP: predicting the impact of unclassified genetic variants in MSH6 by the combination of different properties of the protein.
Terui H; Akagi K; Kawame H; Yura K
J Biomed Sci; 2013 Apr; 20(1):25. PubMed ID: 23621914
[TBL] [Abstract][Full Text] [Related]
11. Genome-wide prediction of disease variant effects with a deep protein language model.
Brandes N; Goldman G; Wang CH; Ye CJ; Ntranos V
Nat Genet; 2023 Sep; 55(9):1512-1522. PubMed ID: 37563329
[TBL] [Abstract][Full Text] [Related]
12. The DBSAV Database: Predicting Deleteriousness of Single Amino Acid Variations in the Human Proteome.
Pei J; Grishin NV
J Mol Biol; 2021 May; 433(11):166915. PubMed ID: 33676930
[TBL] [Abstract][Full Text] [Related]
13. Software for the analysis and visualization of deep mutational scanning data.
Bloom JD
BMC Bioinformatics; 2015 May; 16():168. PubMed ID: 25990960
[TBL] [Abstract][Full Text] [Related]
14. Correspondence between functional scores from deep mutational scans and predicted effects on protein stability.
Gerasimavicius L; Livesey BJ; Marsh JA
Protein Sci; 2023 Jul; 32(7):e4688. PubMed ID: 37243972
[TBL] [Abstract][Full Text] [Related]
15. BRCA1 Circos: a visualisation resource for functional analysis of missense variants.
Jhuraney A; Velkova A; Johnson RC; Kessing B; Carvalho RS; Whiley P; Spurdle AB; Vreeswijk MP; Caputo SM; Millot GA; Vega A; Coquelle N; Galli A; Eccles D; Blok MJ; Pal T; van der Luijt RB; Santamariña Pena M; Neuhausen SL; Donenberg T; Machackova E; Thomas S; Vallée M; Couch FJ; Tavtigian SV; Glover JN; Carvalho MA; Brody LC; Sharan SK; Monteiro AN;
J Med Genet; 2015 Apr; 52(4):224-30. PubMed ID: 25643705
[TBL] [Abstract][Full Text] [Related]
16. Updated benchmarking of variant effect predictors using deep mutational scanning.
Livesey BJ; Marsh JA
Mol Syst Biol; 2023 Aug; 19(8):e11474. PubMed ID: 37310135
[TBL] [Abstract][Full Text] [Related]
17. Protein-protein and protein-nucleic acid binding residues important for common and rare sequence variants in human.
Qiu J; Nechaev D; Rost B
BMC Bioinformatics; 2020 Oct; 21(1):452. PubMed ID: 33050876
[TBL] [Abstract][Full Text] [Related]
18. News from the protein mutability landscape.
Hecht M; Bromberg Y; Rost B
J Mol Biol; 2013 Nov; 425(21):3937-48. PubMed ID: 23896297
[TBL] [Abstract][Full Text] [Related]
19. DeMaSk: a deep mutational scanning substitution matrix and its use for variant impact prediction.
Munro D; Singh M
Bioinformatics; 2021 Apr; 36(22-23):5322-5329. PubMed ID: 33325500
[TBL] [Abstract][Full Text] [Related]
20. SuSPect: enhanced prediction of single amino acid variant (SAV) phenotype using network features.
Yates CM; Filippis I; Kelley LA; Sternberg MJ
J Mol Biol; 2014 Jul; 426(14):2692-701. PubMed ID: 24810707
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]