BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

161 related articles for article (PubMed ID: 33565189)

  • 1. Cancer SIGVAR: A semiautomated interpretation tool for germline variants of hereditary cancer-related genes.
    Li H; Liu S; Wang S; Zeng Q; Chen Y; Fang T; Zhang Y; Zhou Y; Zhang Y; Wang K; Yan Z; Qiang C; Xu M; Chai X; Yuan Y; Huang M; Zhang H; Xiong Y
    Hum Mutat; 2021 Apr; 42(4):359-372. PubMed ID: 33565189
    [TBL] [Abstract][Full Text] [Related]  

  • 2. InterVar: Clinical Interpretation of Genetic Variants by the 2015 ACMG-AMP Guidelines.
    Li Q; Wang K
    Am J Hum Genet; 2017 Feb; 100(2):267-280. PubMed ID: 28132688
    [TBL] [Abstract][Full Text] [Related]  

  • 3. vaRHC: an R package for semi-automation of variant classification in hereditary cancer genes according to ACMG/AMP and gene-specific ClinGen guidelines.
    Munté E; Feliubadaló L; Pineda M; Tornero E; Gonzalez M; Moreno-Cabrera JM; Roca C; Bales Rubio J; Arnaldo L; Capellá G; Mosquera JL; Lázaro C
    Bioinformatics; 2023 Mar; 39(3):. PubMed ID: 36916756
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Specifications of the ACMG/AMP Variant Classification Guidelines for Germline
    Hatton JN; Frone MN; Cox HC; Crowley SB; Hiraki S; Yokoyama NN; Abul-Husn NS; Amatruda JF; Anderson MJ; Bofill-De Ros X; Carr AG; Chao EC; Chen KS; Gu S; Higgs C; Machado J; Ritter D; Schultz KA; Soper ER; Wu MK; Mester JL; Kim J; Foulkes WD; Witkowski L; Stewart DR
    Hum Mutat; 2023; 2023():. PubMed ID: 38084291
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. 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]  

  • 7. Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants.
    Lee K; Krempely K; Roberts ME; Anderson MJ; Carneiro F; Chao E; Dixon K; Figueiredo J; Ghosh R; Huntsman D; Kaurah P; Kesserwan C; Landrith T; Li S; Mensenkamp AR; Oliveira C; Pardo C; Pesaran T; Richardson M; Slavin TP; Spurdle AB; Trapp M; Witkowski L; Yi CS; Zhang L; Plon SE; Schrader KA; Karam R
    Hum Mutat; 2018 Nov; 39(11):1553-1568. PubMed ID: 30311375
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Variant Interpretation for Cancer (VIC): a computational tool for assessing clinical impacts of somatic variants.
    He MM; Li Q; Yan M; Cao H; Hu Y; He KY; Cao K; Li MM; Wang K
    Genome Med; 2019 Aug; 11(1):53. PubMed ID: 31443733
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Toward automation of germline variant curation in clinical cancer genetics.
    Ravichandran V; Shameer Z; Kemel Y; Walsh M; Cadoo K; Lipkin S; Mandelker D; Zhang L; Stadler Z; Robson M; Offit K; Vijai J
    Genet Med; 2019 Sep; 21(9):2116-2125. PubMed ID: 30787465
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Clinical Interpretation of Sequence Variants.
    Zhang J; Yao Y; He H; Shen J
    Curr Protoc Hum Genet; 2020 Jun; 106(1):e98. PubMed ID: 32176464
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretation.
    Rivera-Muñoz EA; Milko LV; Harrison SM; Azzariti DR; Kurtz CL; Lee K; Mester JL; Weaver MA; Currey E; Craigen W; Eng C; Funke B; Hegde M; Hershberger RE; Mao R; Steiner RD; Vincent LM; Martin CL; Plon SE; Ramos E; Rehm HL; Watson M; Berg JS
    Hum Mutat; 2018 Nov; 39(11):1614-1622. PubMed ID: 30311389
    [TBL] [Abstract][Full Text] [Related]  

  • 13. ClinGen's RASopathy Expert Panel consensus methods for variant interpretation.
    Gelb BD; Cavé H; Dillon MW; Gripp KW; Lee JA; Mason-Suares H; Rauen KA; Williams B; Zenker M; Vincent LM;
    Genet Med; 2018 Nov; 20(11):1334-1345. PubMed ID: 29493581
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Gene-specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel.
    Mester JL; Ghosh R; Pesaran T; Huether R; Karam R; Hruska KS; Costa HA; Lachlan K; Ngeow J; Barnholtz-Sloan J; Sesock K; Hernandez F; Zhang L; Milko L; Plon SE; Hegde M; Eng C
    Hum Mutat; 2018 Nov; 39(11):1581-1592. PubMed ID: 30311380
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss.
    Patel MJ; DiStefano MT; Oza AM; Hughes MY; Wilcox EH; Hemphill SE; Cushman BJ; Grant AR; Siegert RK; Shen J; Chapin A; Boczek NJ; Schimmenti LA; Nara K; Kenna M; Azaiez H; Booth KT; Avraham KB; Kremer H; Griffith AJ; Rehm HL; Amr SS; Tayoun ANA;
    Genet Med; 2021 Nov; 23(11):2208-2212. PubMed ID: 34230634
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Specifications of the variant curation guidelines for ITGA2B/ITGB3: ClinGen Platelet Disorder Variant Curation Panel.
    Ross JE; Zhang BM; Lee K; Mohan S; Branchford BR; Bray P; Dugan SN; Freson K; Heller PG; Kahr WHA; Lambert MP; Luchtman-Jones L; Luo M; Perez Botero J; Rondina MT; Ryan G; Westbury S; Bergmeier W; Di Paola J
    Blood Adv; 2021 Jan; 5(2):414-431. PubMed ID: 33496739
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Cancer Predisposition Sequencing Reporter (CPSR): A flexible variant report engine for high-throughput germline screening in cancer.
    Nakken S; Saveliev V; Hofmann O; Møller P; Myklebost O; Hovig E
    Int J Cancer; 2021 Dec; 149(11):1955-1960. PubMed ID: 34310709
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.