178 related articles for article (PubMed ID: 36453528)
1. 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]
2. Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel.
Kountouris P; Stephanou C; Lederer CW; Traeger-Synodinos J; Bento C; Harteveld CL; Fylaktou E; Koopmann TT; Halim-Fikri H; Michailidou K; Nfonsam LE; Waye JS; Zilfalil BA; Kleanthous M;
Hum Mutat; 2022 Aug; 43(8):1089-1096. PubMed ID: 34510646
[TBL] [Abstract][Full Text] [Related]
3. 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]
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. 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]
6. 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]
7. Regional-specific calibration enables application of computational evidence for clinical classification of 5' cis-regulatory variants in Mendelian disease.
Villani RM; McKenzie ME; Davidson AL; Spurdle AB
Am J Hum Genet; 2024 May; ():. PubMed ID: 38815586
[TBL] [Abstract][Full Text] [Related]
8. Spectrum of DDC variants causing aromatic l-amino acid decarboxylase (AADC) deficiency and pathogenicity interpretation using ACMG-AMP/ACGS recommendations.
Himmelreich N; Montioli R; Garbade SF; Kopesky J; Elsea SH; Carducci C; Voltattorni CB; Blau N
Mol Genet Metab; 2022 Dec; 137(4):359-381. PubMed ID: 36427457
[TBL] [Abstract][Full Text] [Related]
9. Ten Years of Routine α- and β-Globin Gene Sequencing in UK Hemoglobinopathy Referrals Reveals 60 Novel Mutations.
Henderson SJ; Timbs AT; McCarthy J; Gallienne AE; Proven M; Rugless MJ; Lopez H; Eglinton J; Dziedzic D; Beardsall M; Khalil MS; Old JM
Hemoglobin; 2016; 40(2):75-84. PubMed ID: 26635043
[TBL] [Abstract][Full Text] [Related]
10. The pathogenicity classification of PAH gene variants in the Iranian population.
Alibakhshi R; Kazeminia M; Moradi K
Comput Biol Chem; 2022 Jun; 98():107665. PubMed ID: 35339094
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Expanding ACMG variant classification guidelines into a general framework.
Masson E; Zou WB; Génin E; Cooper DN; Le Gac G; Fichou Y; Pu N; Rebours V; Férec C; Liao Z; Chen JM
Hum Genomics; 2022 Aug; 16(1):31. PubMed ID: 35974416
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP.
Walker LC; de la Hoya M; Wiggins GAR; Lindy A; Vincent LM; Parsons MT; Canson DM; Bis-Brewer D; Cass A; Tchourbanov A; Zimmermann H; Byrne AB; Pesaran T; Karam R; Harrison S; Spurdle AB
medRxiv; 2023 Feb; ():. PubMed ID: 36865205
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Tailoring the American College of Medical Genetics and Genomics and the Association for Molecular Pathology Guidelines for the Interpretation of Sequenced Variants in the
Muiño-Mosquera L; Steijns F; Audenaert T; Meerschaut I; De Paepe A; Steyaert W; Symoens S; Coucke P; Callewaert B; Renard M; De Backer J
Circ Genom Precis Med; 2018 Jun; 11(6):e002039. PubMed ID: 29875124
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. 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]
19. 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]
20. 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]
[Next] [New Search]
