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 *

103 related articles for article (PubMed ID: 34949530)

  • 1. Automated reanalysis application to assist in detecting novel gene-disease associations after genome sequencing.
    Mensah NE; Sabir AH; Bond A; Roworth W; Irving M; Davies AC; Ahn JW
    Genet Med; 2022 Apr; 24(4):811-820. PubMed ID: 34949530
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases.
    Bullich G; Matalonga L; Pujadas M; Papakonstantinou A; Piscia D; Tonda R; Artuch R; Gallano P; Garrabou G; González JR; Grinberg D; Guitart M; Laurie S; Lázaro C; Luengo C; Martí R; Milà M; Ovelleiro D; Parra G; Pujol A; Tizzano E; Macaya A; Palau F; Ribes A; Pérez-Jurado LA; Beltran S;
    J Mol Diagn; 2022 May; 24(5):529-542. PubMed ID: 35569879
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Solving patients with rare diseases through programmatic reanalysis of genome-phenome data.
    Matalonga L; Hernández-Ferrer C; Piscia D; ; Schüle R; Synofzik M; Töpf A; Vissers LELM; de Voer R; ; ; ; ; Tonda R; Laurie S; Fernandez-Callejo M; Picó D; Garcia-Linares C; Papakonstantinou A; Corvó A; Joshi R; Diez H; Gut I; Hoischen A; Graessner H; Beltran S;
    Eur J Hum Genet; 2021 Sep; 29(9):1337-1347. PubMed ID: 34075210
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Reanalysis of eMERGE phase III sequence variants in 10,500 participants and infrastructure to support the automated return of knowledge updates.
    Zouk H; Yu W; Oza A; Hawley M; Vijay Kumar PK; Koch C; Mahanta LM; Harley JB; Jarvik GP; Karlson EW; Leppig KA; Myers MF; Prows CA; Williams MS; Weiss ST; Lebo MS; Rehm HL
    Genet Med; 2022 Feb; 24(2):454-462. PubMed ID: 34906510
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Automated reanalysis, a novel way to diagnose an ultra-rare condition: Fibronectin-1-related spondylometaphyseal dysplasia (SMD-FN1).
    Sabir AH; Singhal J; Man J; Mensah NE; Ahn JW; Cheung MS; Irving M
    Clin Dysmorphol; 2021 Jul; 30(3):154-158. PubMed ID: 33605604
    [TBL] [Abstract][Full Text] [Related]  

  • 6. GenIO: a phenotype-genotype analysis web server for clinical genomics of rare diseases.
    Koile D; Cordoba M; de Sousa Serro M; Kauffman MA; Yankilevich P
    BMC Bioinformatics; 2018 Jan; 19(1):25. PubMed ID: 29374474
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Partially automated whole-genome sequencing reanalysis of previously undiagnosed pediatric patients can efficiently yield new diagnoses.
    James KN; Clark MM; Camp B; Kint C; Schols P; Batalov S; Briggs B; Veeraraghavan N; Chowdhury S; Kingsmore SF
    NPJ Genom Med; 2020; 5():33. PubMed ID: 32821428
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Automated Clinical Exome Reanalysis Reveals Novel Diagnoses.
    Baker SW; Murrell JR; Nesbitt AI; Pechter KB; Balciuniene J; Zhao X; Yu Z; Denenberg EH; DeChene ET; Wilkens AB; Bhoj EJ; Guan Q; Dulik MC; Conlin LK; Abou Tayoun AN; Luo M; Wu C; Cao K; Sarmady M; Bedoukian EC; Tarpinian J; Medne L; Skraban CM; Deardorff MA; Krantz ID; Krock BL; Santani AB
    J Mol Diagn; 2019 Jan; 21(1):38-48. PubMed ID: 30577886
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Increased diagnostic yield from negative whole genome-slice panels using automated reanalysis.
    Berger SI; Pitsava G; Cohen AJ; Délot EC; LoTempio J; Andrew EH; Martin GM; Marmolejos S; Albert J; Meltzer B; Fraser J; Regier DS; Kahn-Kirby AH; Smith E; Knoblach S; Ko A; Fusaro VA; Vilain E
    Clin Genet; 2023 Sep; 104(3):377-383. PubMed ID: 37194472
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Rare Variants Associated with Arrhythmogenic Cardiomyopathy: Reclassification Five Years Later.
    Vallverdú-Prats M; Alcalde M; Sarquella-Brugada G; Cesar S; Arbelo E; Fernandez-Falgueras A; Coll M; Pérez-Serra A; Puigmulé M; Iglesias A; Fiol V; Ferrer-Costa C; Olmo BD; Picó F; Lopez L; Jordà P; García-Álvarez A; Llano CT; Toro R; Grassi S; Oliva A; Brugada J; Brugada R; Campuzano O
    J Pers Med; 2021 Feb; 11(3):. PubMed ID: 33652588
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. GeneTerpret: a customizable multilayer approach to genomic variant prioritization and interpretation.
    Manshaei R; DeLong S; Andric V; Joshi E; Okello JBA; Dhir P; Somerville C; Farncombe KM; Kalbfleisch K; Jobling RK; Scherer SW; Kim RH; Hosseini SM
    BMC Med Genomics; 2022 Feb; 15(1):31. PubMed ID: 35180879
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. BioBin: a bioinformatics tool for automating the binning of rare variants using publicly available biological knowledge.
    Moore CB; Wallace JR; Frase AT; Pendergrass SA; Ritchie MD
    BMC Med Genomics; 2013; 6 Suppl 2(Suppl 2):S6. PubMed ID: 23819467
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Reanalysis of genomic data in rare disease: current practice and attitudes among Australian clinical and laboratory genetics services.
    Best S; Fehlberg Z; Richards C; Quinn MCJ; Lunke S; Spurdle AB; Kassahn KS; Patel C; Vears DF; Goranitis I; Lynch F; Robertson A; Tudini E; Christodoulou J; Scott H; McGaughran J; Stark Z
    Eur J Hum Genet; 2024 Nov; 32(11):1428-1435. PubMed ID: 38796577
    [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. Evaluation of an automated genome interpretation model for rare disease routinely used in a clinical genetic laboratory.
    Meng L; Attali R; Talmy T; Regev Y; Mizrahi N; Smirin-Yosef P; Vossaert L; Taborda C; Santana M; Machol I; Xiao R; Dai H; Eng C; Xia F; Tzur S
    Genet Med; 2023 Jun; 25(6):100830. PubMed ID: 36939041
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Clinical Exome Reanalysis: Current Practice and Beyond.
    Ji J; Leung ML; Baker S; Deignan JL; Santani A
    Mol Diagn Ther; 2021 Sep; 25(5):529-536. PubMed ID: 34283395
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Reanalysis and reclassification of rare genetic variants associated with inherited arrhythmogenic syndromes.
    Campuzano O; Sarquella-Brugada G; Fernandez-Falgueras A; Coll M; Iglesias A; Ferrer-Costa C; Cesar S; Arbelo E; García-Álvarez A; Jordà P; Toro R; Tiron de Llano C; Grassi S; Oliva A; Brugada J; Brugada R
    EBioMedicine; 2020 Apr; 54():102732. PubMed ID: 32268277
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 6.