197 related articles for article (PubMed ID: 32843488)
1. Assessing performance of pathogenicity predictors using clinically relevant variant datasets.
Gunning AC; Fryer V; Fasham J; Crosby AH; Ellard S; Baple EL; Wright CF
J Med Genet; 2021 Aug; 58(8):547-555. PubMed ID: 32843488
[TBL] [Abstract][Full Text] [Related]
2. Novel gene-specific Bayesian Gaussian mixture model to predict the missense variants pathogenicity of Sanfilippo syndrome.
Mohammed EEA; Fayez AG; Abdelfattah NM; Fateen E
Sci Rep; 2024 May; 14(1):12148. PubMed ID: 38802532
[TBL] [Abstract][Full Text] [Related]
3. REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants.
Ioannidis NM; Rothstein JH; Pejaver V; Middha S; McDonnell SK; Baheti S; Musolf A; Li Q; Holzinger E; Karyadi D; Cannon-Albright LA; Teerlink CC; Stanford JL; Isaacs WB; Xu J; Cooney KA; Lange EM; Schleutker J; Carpten JD; Powell IJ; Cussenot O; Cancel-Tassin G; Giles GG; MacInnis RJ; Maier C; Hsieh CL; Wiklund F; Catalona WJ; Foulkes WD; Mandal D; Eeles RA; Kote-Jarai Z; Bustamante CD; Schaid DJ; Hastie T; Ostrander EA; Bailey-Wilson JE; Radivojac P; Thibodeau SN; Whittemore AS; Sieh W
Am J Hum Genet; 2016 Oct; 99(4):877-885. PubMed ID: 27666373
[TBL] [Abstract][Full Text] [Related]
4. CAPICE: a computational method for Consequence-Agnostic Pathogenicity Interpretation of Clinical Exome variations.
Li S; van der Velde KJ; de Ridder D; van Dijk ADJ; Soudis D; Zwerwer LR; Deelen P; Hendriksen D; Charbon B; van Gijn ME; Abbott K; Sikkema-Raddatz B; van Diemen CC; Kerstjens-Frederikse WS; Sinke RJ; Swertz MA
Genome Med; 2020 Aug; 12(1):75. PubMed ID: 32831124
[TBL] [Abstract][Full Text] [Related]
5. Comparison of Pathogenicity Prediction Tools on Somatic Variants.
Suybeng V; Koeppel F; Harlé A; Rouleau E
J Mol Diagn; 2020 Dec; 22(12):1383-1392. PubMed ID: 33011441
[TBL] [Abstract][Full Text] [Related]
6. ClinPred: Prediction Tool to Identify Disease-Relevant Nonsynonymous Single-Nucleotide Variants.
Alirezaie N; Kernohan KD; Hartley T; Majewski J; Hocking TD
Am J Hum Genet; 2018 Oct; 103(4):474-483. PubMed ID: 30220433
[TBL] [Abstract][Full Text] [Related]
7. TAPES: A tool for assessment and prioritisation in exome studies.
Xavier A; Scott RJ; Talseth-Palmer BA
PLoS Comput Biol; 2019 Oct; 15(10):e1007453. PubMed ID: 31613886
[TBL] [Abstract][Full Text] [Related]
8. Development of pathogenicity predictors specific for variants that do not comply with clinical guidelines for the use of computational evidence.
de la Campa EÁ; Padilla N; de la Cruz X
BMC Genomics; 2017 Aug; 18(Suppl 5):569. PubMed ID: 28812538
[TBL] [Abstract][Full Text] [Related]
9. Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium.
Amendola LM; Jarvik GP; Leo MC; McLaughlin HM; Akkari Y; Amaral MD; Berg JS; Biswas S; Bowling KM; Conlin LK; Cooper GM; Dorschner MO; Dulik MC; Ghazani AA; Ghosh R; Green RC; Hart R; Horton C; Johnston JJ; Lebo MS; Milosavljevic A; Ou J; Pak CM; Patel RY; Punj S; Richards CS; Salama J; Strande NT; Yang Y; Plon SE; Biesecker LG; Rehm HL
Am J Hum Genet; 2016 Jun; 98(6):1067-1076. PubMed ID: 27181684
[TBL] [Abstract][Full Text] [Related]
10. How good are pathogenicity predictors in detecting benign variants?
Niroula A; Vihinen M
PLoS Comput Biol; 2019 Feb; 15(2):e1006481. PubMed ID: 30742610
[TBL] [Abstract][Full Text] [Related]
11. Benchmarking subcellular localization and variant tolerance predictors on membrane proteins.
Orioli T; Vihinen M
BMC Genomics; 2019 Jul; 20(Suppl 8):547. PubMed ID: 31307390
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.
Tian Y; Pesaran T; Chamberlin A; Fenwick RB; Li S; Gau CL; Chao EC; Lu HM; Black MH; Qian D
Sci Rep; 2019 Sep; 9(1):12752. PubMed ID: 31484976
[TBL] [Abstract][Full Text] [Related]
14. Evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelines.
Ghosh R; Oak N; Plon SE
Genome Biol; 2017 Nov; 18(1):225. PubMed ID: 29179779
[TBL] [Abstract][Full Text] [Related]
15. Assessment of 13 in silico pathogenicity methods on cancer-related variants.
Yazar M; Ozbek P
Comput Biol Med; 2022 Jun; 145():105434. PubMed ID: 35364305
[TBL] [Abstract][Full Text] [Related]
16. CSmetaPred: a consensus method for prediction of catalytic residues.
Choudhary P; Kumar S; Bachhawat AK; Pandit SB
BMC Bioinformatics; 2017 Dec; 18(1):583. PubMed ID: 29273005
[TBL] [Abstract][Full Text] [Related]
17. The evaluation of tools used to predict the impact of missense variants is hindered by two types of circularity.
Grimm DG; Azencott CA; Aicheler F; Gieraths U; MacArthur DG; Samocha KE; Cooper DN; Stenson PD; Daly MJ; Smoller JW; Duncan LE; Borgwardt KM
Hum Mutat; 2015 May; 36(5):513-23. PubMed ID: 25684150
[TBL] [Abstract][Full Text] [Related]
18. Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies.
Amendola LM; Muenzen K; Biesecker LG; Bowling KM; Cooper GM; Dorschner MO; Driscoll C; Foreman AKM; Golden-Grant K; Greally JM; Hindorff L; Kanavy D; Jobanputra V; Johnston JJ; Kenny EE; McNulty S; Murali P; Ou J; Powell BC; Rehm HL; Rolf B; Roman TS; Van Ziffle J; Guha S; Abhyankar A; Crosslin D; Venner E; Yuan B; Zouk H; ; Jarvik GP
Am J Hum Genet; 2020 Nov; 107(5):932-941. PubMed ID: 33108757
[TBL] [Abstract][Full Text] [Related]
19. NCI-60 whole exome sequencing and pharmacological CellMiner analyses.
Reinhold WC; Varma S; Sousa F; Sunshine M; Abaan OD; Davis SR; Reinhold SW; Kohn KW; Morris J; Meltzer PS; Doroshow JH; Pommier Y
PLoS One; 2014; 9(7):e101670. PubMed ID: 25032700
[TBL] [Abstract][Full Text] [Related]
20. Variant recurrence in neurodevelopmental disorders: the use of publicly available genomic data identifies clinically relevant pathogenic missense variants.
Lecoquierre F; Duffourd Y; Vitobello A; Bruel AL; Urteaga B; Coubes C; Garret P; Nambot S; Chevarin M; Jouan T; Moutton S; ; Tran-Mau-Them F; Philippe C; Sorlin A; Faivre L; Thauvin-Robinet C
Genet Med; 2019 Nov; 21(11):2504-2511. PubMed ID: 31036916
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]