248 related articles for article (PubMed ID: 36413997)
1. 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]
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. Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendations.
Stenton SL; Pejaver V; Bergquist T; Biesecker LG; Byrne AB; Nadeau E; Greenblatt MS; Harrison S; Tavtigian S; Radivojac P; Brenner SE; O'Donnell-Luria A
medRxiv; 2024 Mar; ():. PubMed ID: 38496501
[TBL] [Abstract][Full Text] [Related]
4. Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup.
Walker LC; 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 SM; Spurdle AB;
Am J Hum Genet; 2023 Jul; 110(7):1046-1067. PubMed ID: 37352859
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. 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]
8. VIP-HL: Semi-automated ACMG/AMP variant interpretation platform for genetic hearing loss.
Peng J; Xiang J; Jin X; Meng J; Song N; Chen L; Abou Tayoun A; Peng Z
Hum Mutat; 2021 Dec; 42(12):1567-1575. PubMed ID: 34428318
[TBL] [Abstract][Full Text] [Related]
9. Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework.
Tavtigian SV; Greenblatt MS; Harrison SM; Nussbaum RL; Prabhu SA; Boucher KM; Biesecker LG;
Genet Med; 2018 Sep; 20(9):1054-1060. PubMed ID: 29300386
[TBL] [Abstract][Full Text] [Related]
10. The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification.
Chora JR; Iacocca MA; Tichý L; Wand H; Kurtz CL; Zimmermann H; Leon A; Williams M; Humphries SE; Hooper AJ; Trinder M; Brunham LR; Costa Pereira A; Jannes CE; Chen M; Chonis J; Wang J; Kim S; Johnston T; Soucek P; Kramarek M; Leigh SE; Carrié A; Sijbrands EJ; Hegele RA; Freiberger T; Knowles JW; Bourbon M;
Genet Med; 2022 Feb; 24(2):293-306. PubMed ID: 34906454
[TBL] [Abstract][Full Text] [Related]
11. Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework.
Brnich SE; Abou Tayoun AN; Couch FJ; Cutting GR; Greenblatt MS; Heinen CD; Kanavy DM; Luo X; McNulty SM; Starita LM; Tavtigian SV; Wright MW; Harrison SM; Biesecker LG; Berg JS;
Genome Med; 2019 Dec; 12(1):3. PubMed ID: 31892348
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants.
Patel RY; Shah N; Jackson AR; Ghosh R; Pawliczek P; Paithankar S; Baker A; Riehle K; Chen H; Milosavljevic S; Bizon C; Rynearson S; Nelson T; Jarvik GP; Rehm HL; Harrison SM; Azzariti D; Powell B; Babb L; Plon SE; Milosavljevic A;
Genome Med; 2017 Jan; 9(1):3. PubMed ID: 28081714
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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]
16. 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]
17. Variant Classification for Pompe disease; ACMG/AMP specifications from the ClinGen Lysosomal Diseases Variant Curation Expert Panel.
Goldstein JL; McGlaughon J; Kanavy D; Goomber S; Pan Y; Deml B; Donti T; Kearns L; Seifert BA; Schachter M; Son RG; Thaxton C; Udani R; Bali D; Baudet H; Caggana M; Hung C; Kyriakopoulou L; Rosenblum L; Steiner R; Pinto E Vairo F; Wang Y; Watson M; Fernandez R; Weaver M; Clarke L; Rehder C
Mol Genet Metab; 2023; 140(1-2):107715. PubMed ID: 37907381
[TBL] [Abstract][Full Text] [Related]
18. Quantitative thresholds for variant enrichment in 13,845 cases: improving pathogenicity classification in genetic hearing loss.
Liu S; Zhong M; Huang Y; Zhang Q; Chen T; Xu X; Peng W; Wang X; Feng X; Kang L; Lu Y; Cheng J; Bu F; Yuan H
Genome Med; 2023 Dec; 15(1):116. PubMed ID: 38111038
[TBL] [Abstract][Full Text] [Related]
19. Estimating the proportion of pathogenic variants from breast cancer case-control data: Application to calibration of ACMG/AMP variant classification criteria.
James PA; Fortuno C; Li N; Lim BWX; Campbell IG; Spurdle AB
Hum Mutat; 2022 Jul; 43(7):882-888. PubMed ID: 35191126
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
