131 related articles for article (PubMed ID: 34230640)
1. Clinical likelihood ratios and balanced accuracy for 44 in silico tools against multiple large-scale functional assays of cancer susceptibility genes.
Cubuk C; Garrett A; Choi S; King L; Loveday C; Torr B; Burghel GJ; Durkie M; Callaway A; Robinson R; Drummond J; Berry I; Wallace A; Eccles D; Tischkowitz M; Whiffin N; Ware JS; Hanson H; Turnbull C; CanVIG-Uk
Genet Med; 2021 Nov; 23(11):2096-2104. PubMed ID: 34230640
[TBL] [Abstract][Full Text] [Related]
2. Evaluating the impact of in silico predictors on clinical variant classification.
Wilcox EH; Sarmady M; Wulf B; Wright MW; Rehm HL; Biesecker LG; Abou Tayoun AN
Genet Med; 2022 Apr; 24(4):924-930. PubMed ID: 34955381
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
Pejaver V; Byrne AB; Feng BJ; Pagel KA; Mooney SD; Karchin R; O'Donnell-Luria A; Harrison SM; Tavtigian SV; Greenblatt MS; Biesecker LG; Radivojac P; Brenner SE;
Am J Hum Genet; 2022 Dec; 109(12):2163-2177. PubMed ID: 36413997
[TBL] [Abstract][Full Text] [Related]
5. Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants.
Loong L; Cubuk C; Choi S; Allen S; Torr B; Garrett A; Loveday C; Durkie M; Callaway A; Burghel GJ; Drummond J; Robinson R; Berry IR; Wallace A; Eccles DM; Tischkowitz M; Ellard S; Ware JS; Hanson H; Turnbull C;
Genet Med; 2022 Mar; 24(3):552-563. PubMed ID: 34906453
[TBL] [Abstract][Full Text] [Related]
6. Evaluation of in silico predictors on short nucleotide variants in
Tamana S; Xenophontos M; Minaidou A; Stephanou C; Harteveld CL; Bento C; Traeger-Synodinos J; Fylaktou I; Yasin NM; Abdul Hamid FS; Esa E; Halim-Fikri H; Zilfalil BA; Kakouri AC; ; Kleanthous M; Kountouris P
Elife; 2022 Dec; 11():. PubMed ID: 36453528
[TBL] [Abstract][Full Text] [Related]
7. Tumour characteristics provide evidence for germline mismatch repair missense variant pathogenicity.
Li S; Qian D; Thompson BA; Gutierrez S; Wu S; Pesaran T; LaDuca H; Lu HM; Chao EC; Black MH
J Med Genet; 2020 Jan; 57(1):62-69. PubMed ID: 31391288
[TBL] [Abstract][Full Text] [Related]
8. Improved, ACMG-compliant, in silico prediction of pathogenicity for missense substitutions encoded by TP53 variants.
Fortuno C; James PA; Young EL; Feng B; Olivier M; Pesaran T; Tavtigian SV; Spurdle AB
Hum Mutat; 2018 Aug; 39(8):1061-1069. PubMed ID: 29775997
[TBL] [Abstract][Full Text] [Related]
9. Good performance of the criteria of American College of Medical Genetics and Genomics/Association for Molecular Pathology in prediction of pathogenicity of genetic variants causing thoracic aortic aneurysms and dissections.
Ponińska JK; Bilińska ZT; Truszkowska G; Michalak E; Podgórska A; Stępień-Wojno M; Chmielewski P; Lutyńska A; Płoski R
J Transl Med; 2022 Jan; 20(1):42. PubMed ID: 35078481
[TBL] [Abstract][Full Text] [Related]
10. Integration of functional assay data results provides strong evidence for classification of hundreds of BRCA1 variants of uncertain significance.
Lyra PCM; Nepomuceno TC; de Souza MLM; Machado GF; Veloso MF; Henriques TB; Dos Santos DZ; Ribeiro IG; Ribeiro RS; Rangel LBA; Richardson M; Iversen ES; Goldgar D; Couch FJ; Carvalho MA; Monteiro ANA
Genet Med; 2021 Feb; 23(2):306-315. PubMed ID: 33087888
[TBL] [Abstract][Full Text] [Related]
11. Variant curation expert panel recommendations for RYR1 pathogenicity classifications in malignant hyperthermia susceptibility.
Johnston JJ; Dirksen RT; Girard T; Gonsalves SG; Hopkins PM; Riazi S; Saddic LA; Sambuughin N; Saxena R; Stowell K; Weber J; Rosenberg H; Biesecker LG
Genet Med; 2021 Jul; 23(7):1288-1295. PubMed ID: 33767344
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Curated multiple sequence alignment for the Adenomatous Polyposis Coli (APC) gene and accuracy of in silico pathogenicity predictions.
Karabachev AD; Martini DJ; Hermel DJ; Solcz D; Richardson ME; Pesaran T; Sarkar IN; Greenblatt MS
PLoS One; 2020; 15(8):e0233673. PubMed ID: 32750050
[TBL] [Abstract][Full Text] [Related]
14. Combining evidence for and against pathogenicity for variants in cancer susceptibility genes: CanVIG-UK consensus recommendations.
Garrett A; Durkie M; Callaway A; Burghel GJ; Robinson R; Drummond J; Torr B; Cubuk C; Berry IR; Wallace AJ; Ellard S; Eccles DM; Tischkowitz M; Hanson H; Turnbull C;
J Med Genet; 2021 May; 58(5):297-304. PubMed ID: 33208383
[TBL] [Abstract][Full Text] [Related]
15. BRCA1/2 missense mutations and the value of in-silico analyses.
Sadowski CE; Kohlstedt D; Meisel C; Keller K; Becker K; Mackenroth L; Rump A; Schröck E; Wimberger P; Kast K
Eur J Med Genet; 2017 Nov; 60(11):572-577. PubMed ID: 28807866
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Reclassification of
Lee JS; Oh S; Park SK; Lee MH; Lee JW; Kim SW; Son BH; Noh DY; Lee JE; Park HL; Kim MJ; Cho SI; Lee YK; Park SS; Seong MW
J Med Genet; 2018 Dec; 55(12):794-802. PubMed ID: 30415210
[TBL] [Abstract][Full Text] [Related]
18. Assessment of the predictive accuracy of five in silico prediction tools, alone or in combination, and two metaservers to classify long QT syndrome gene mutations.
Leong IU; Stuckey A; Lai D; Skinner JR; Love DR
BMC Med Genet; 2015 May; 16():34. PubMed ID: 25967940
[TBL] [Abstract][Full Text] [Related]
19. Comprehensive annotation of BRCA1 and BRCA2 missense variants by functionally validated sequence-based computational prediction models.
Hart SN; Hoskin T; Shimelis H; Moore RM; Feng B; Thomas A; Lindor NM; Polley EC; Goldgar DE; Iversen E; Monteiro ANA; Suman VJ; Couch FJ
Genet Med; 2019 Jan; 21(1):71-80. PubMed ID: 29884841
[TBL] [Abstract][Full Text] [Related]
20. Differences in patient ascertainment affect the use of gene-specified ACMG/AMP phenotype-related variant classification criteria: Evidence for TP53.
Fortuno C; Pesaran T; Dolinsky J; Yussuf A; McGoldrick K; Goldgar D; James PA; Spurdle AB
Hum Mutat; 2020 Mar; 41(3):537-542. PubMed ID: 31898864
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
