These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

190 related articles for article (PubMed ID: 29369293)

  • 1. CardioClassifier: disease- and gene-specific computational decision support for clinical genome interpretation.
    Whiffin N; Walsh R; Govind R; Edwards M; Ahmad M; Zhang X; Tayal U; Buchan R; Midwinter W; Wilk AE; Najgebauer H; Francis C; Wilkinson S; Monk T; Brett L; O'Regan DP; Prasad SK; Morris-Rosendahl DJ; Barton PJR; Edwards E; Ware JS; Cook SA
    Genet Med; 2018 Oct; 20(10):1246-1254. PubMed ID: 29369293
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. Genome analysis and knowledge-driven variant interpretation with TGex.
    Dahary D; Golan Y; Mazor Y; Zelig O; Barshir R; Twik M; Iny Stein T; Rosner G; Kariv R; Chen F; Zhang Q; Shen Y; Safran M; Lancet D; Fishilevich S
    BMC Med Genomics; 2019 Dec; 12(1):200. PubMed ID: 31888639
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variants.
    Brandt T; Sack LM; Arjona D; Tan D; Mei H; Cui H; Gao H; Bean LJH; Ankala A; Del Gaudio D; Knight Johnson A; Vincent LM; Reavey C; Lai A; Richard G; Meck JM
    Genet Med; 2020 Feb; 22(2):336-344. PubMed ID: 31534211
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. Cruxome: a powerful tool for annotating, interpreting and reporting genetic variants.
    Han Q; Yang Y; Wu S; Liao Y; Zhang S; Liang H; Cram DS; Zhang Y
    BMC Genomics; 2021 Jun; 22(1):407. PubMed ID: 34082700
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. Quantifying the potential of functional evidence to reclassify variants of uncertain significance in the categorical and Bayesian interpretation frameworks.
    Brnich SE; Rivera-Muñoz EA; Berg JS
    Hum Mutat; 2018 Nov; 39(11):1531-1541. PubMed ID: 30095857
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss.
    Oza AM; DiStefano MT; Hemphill SE; Cushman BJ; Grant AR; Siegert RK; Shen J; Chapin A; Boczek NJ; Schimmenti LA; Murry JB; Hasadsri L; Nara K; Kenna M; Booth KT; Azaiez H; Griffith A; Avraham KB; Kremer H; Rehm HL; Amr SS; Abou Tayoun AN;
    Hum Mutat; 2018 Nov; 39(11):1593-1613. PubMed ID: 30311386
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Variant Selection and Interpretation: An Example of Modified VarSome Classifier of ACMG Guidelines in the Diagnostic Setting.
    Cristofoli F; Sorrentino E; Guerri G; Miotto R; Romanelli R; Zulian A; Cecchin S; Paolacci S; Miertus J; Bertelli M; Maltese PE; Chiurazzi P; Stuppia L; Castori M; Marceddu G
    Genes (Basel); 2021 Nov; 12(12):. PubMed ID: 34946832
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 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. The current state of clinical interpretation of sequence variants.
    Hoskinson DC; Dubuc AM; Mason-Suares H
    Curr Opin Genet Dev; 2017 Feb; 42():33-39. PubMed ID: 28157586
    [TBL] [Abstract][Full Text] [Related]  

  • 18. AutoPVS1: An automatic classification tool for PVS1 interpretation of null variants.
    Xiang J; Peng J; Baxter S; Peng Z
    Hum Mutat; 2020 Sep; 41(9):1488-1498. PubMed ID: 32442321
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.
    Nykamp K; Anderson M; Powers M; Garcia J; Herrera B; Ho YY; Kobayashi Y; Patil N; Thusberg J; Westbrook M; ; Topper S
    Genet Med; 2017 Oct; 19(10):1105-1117. PubMed ID: 28492532
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.