BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

122 related articles for article (PubMed ID: 32241160)

  • 1. Evaluation of an amplicon-based custom gene panel for the diagnosis of hereditary tumors.
    Shinriki S; Maeshiro M; Shimamura K; Kawashima J; Araki E; Ibusuki M; Yamamoto Y; Iwase H; Miyamoto Y; Baba H; Yamaguchi M; Matsui H
    Neoplasma; 2020 Jul; 67(4):898-908. PubMed ID: 32241160
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Development and analytical validation of a 25-gene next generation sequencing panel that includes the BRCA1 and BRCA2 genes to assess hereditary cancer risk.
    Judkins T; Leclair B; Bowles K; Gutin N; Trost J; McCulloch J; Bhatnagar S; Murray A; Craft J; Wardell B; Bastian M; Mitchell J; Chen J; Tran T; Williams D; Potter J; Jammulapati S; Perry M; Morris B; Roa B; Timms K
    BMC Cancer; 2015 Apr; 15():215. PubMed ID: 25886519
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Evaluation of the Ion Torrent PGM sequencing workflow for the routine rapid detection of BRCA1 and BRCA2 germline mutations.
    Zanella I; Merola F; Biasiotto G; Archetti S; Spinelli E; Di Lorenzo D
    Exp Mol Pathol; 2017 Apr; 102(2):314-320. PubMed ID: 28263838
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Evaluation of an amplicon-based next-generation sequencing panel for detection of BRCA1 and BRCA2 genetic variants.
    Shin S; Hwang IS; Lee ST; Choi JR
    Breast Cancer Res Treat; 2016 Aug; 158(3):433-40. PubMed ID: 27383479
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Sanger Confirmation Is Required to Achieve Optimal Sensitivity and Specificity in Next-Generation Sequencing Panel Testing.
    Mu W; Lu HM; Chen J; Li S; Elliott AM
    J Mol Diagn; 2016 Nov; 18(6):923-932. PubMed ID: 27720647
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Clinical Next-Generation Sequencing Pipeline Outperforms a Combined Approach Using Sanger Sequencing and Multiplex Ligation-Dependent Probe Amplification in Targeted Gene Panel Analysis.
    Schenkel LC; Kerkhof J; Stuart A; Reilly J; Eng B; Woodside C; Levstik A; Howlett CJ; Rupar AC; Knoll JHM; Ainsworth P; Waye JS; Sadikovic B
    J Mol Diagn; 2016 Sep; 18(5):657-667. PubMed ID: 27376475
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Analysis of hereditary cancer syndromes by using a panel of genes: novel and multiple pathogenic mutations.
    Tsaousis GN; Papadopoulou E; Apessos A; Agiannitopoulos K; Pepe G; Kampouri S; Diamantopoulos N; Floros T; Iosifidou R; Katopodi O; Koumarianou A; Markopoulos C; Papazisis K; Venizelos V; Xanthakis I; Xepapadakis G; Banu E; Eniu DT; Negru S; Stanculeanu DL; Ungureanu A; Ozmen V; Tansan S; Tekinel M; Yalcin S; Nasioulas G
    BMC Cancer; 2019 Jun; 19(1):535. PubMed ID: 31159747
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Molecular-genetic diagnostics of von Hippel-Lindau syndrome (VHL) in Bulgaria: first complex mutation event in the VHL gene.
    Glushkova M; Dimova P; Yordanova I; Todorov T; Tourtourikov I; Mitev V; Todorova A
    Int J Neurosci; 2018 Feb; 128(2):117-124. PubMed ID: 28849724
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Confirming Variants in Next-Generation Sequencing Panel Testing by Sanger Sequencing.
    Baudhuin LM; Lagerstedt SA; Klee EW; Fadra N; Oglesbee D; Ferber MJ
    J Mol Diagn; 2015 Jul; 17(4):456-61. PubMed ID: 25960255
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Next-generation sequencing for genetic testing of familial colorectal cancer syndromes.
    Simbolo M; Mafficini A; Agostini M; Pedrazzani C; Bedin C; Urso ED; Nitti D; Turri G; Scardoni M; Fassan M; Scarpa A
    Hered Cancer Clin Pract; 2015; 13(1):18. PubMed ID: 26300997
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Optimization of Next-Generation Sequencing Technologies for von Hippel Lindau (VHL) Mosaic Mutation Detection and Development of Confirmation Methods.
    Coppin L; Plouvier P; Crépin M; Jourdain AS; Ait Yahya E; Richard S; Bressac-de Paillerets B; Cardot-Bauters C; Lejeune S; Leclerc J; Pigny P
    J Mol Diagn; 2019 May; 21(3):462-470. PubMed ID: 30731206
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Analysis of amplicon-based NGS data from neurological disease gene panels: a new method for allele drop-out management.
    Zucca S; Villaraggia M; Gagliardi S; Grieco GS; Valente M; Cereda C; Magni P
    BMC Bioinformatics; 2016 Nov; 17(Suppl 12):339. PubMed ID: 28185542
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Clinical application of targeted next-generation sequencing in fetuses with congenital heart defect.
    Hu P; Qiao F; Wang Y; Meng L; Ji X; Luo C; Xu T; Zhou R; Zhang J; Yu B; Wang L; Wang T; Pan Q; Ma D; Liang D; Xu Z
    Ultrasound Obstet Gynecol; 2018 Aug; 52(2):205-211. PubMed ID: 29536580
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Comprehensive detection of germline variants by MSK-IMPACT, a clinical diagnostic platform for solid tumor molecular oncology and concurrent cancer predisposition testing.
    Cheng DT; Prasad M; Chekaluk Y; Benayed R; Sadowska J; Zehir A; Syed A; Wang YE; Somar J; Li Y; Yelskaya Z; Wong D; Robson ME; Offit K; Berger MF; Nafa K; Ladanyi M; Zhang L
    BMC Med Genomics; 2017 May; 10(1):33. PubMed ID: 28526081
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A Novel Targeted Amplicon Next-Generation Sequencing Gene Panel for the Diagnosis of Common Variable Immunodeficiency Has a High Diagnostic Yield: Results from the Perth CVID Cohort Study.
    Kermode W; De Santis D; Truong L; Della Mina E; Salman S; Thompson G; Nolan D; Loh R; Mallon D; Mclean-Tooke A; John M; Tangye SG; O'Sullivan M; D'Orsogna LJ
    J Mol Diagn; 2022 Jun; 24(6):586-599. PubMed ID: 35570134
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Comprehensive genetic testing approach for major inherited kidney diseases, using next-generation sequencing with a custom panel.
    Mori T; Hosomichi K; Chiga M; Mandai S; Nakaoka H; Sohara E; Okado T; Rai T; Sasaki S; Inoue I; Uchida S
    Clin Exp Nephrol; 2017 Feb; 21(1):63-75. PubMed ID: 26920127
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Molecular diagnosis of inherited peripheral neuropathies by targeted next-generation sequencing: molecular spectrum delineation.
    Bacquet J; Stojkovic T; Boyer A; Martini N; Audic F; Chabrol B; Salort-Campana E; Delmont E; Desvignes JP; Verschueren A; Attarian S; Chaussenot A; Delague V; Levy N; Bonello-Palot N
    BMJ Open; 2018 Oct; 8(10):e021632. PubMed ID: 30373780
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Next-generation sequencing using a pre-designed gene panel for the molecular diagnosis of congenital disorders in pediatric patients.
    Lim EC; Brett M; Lai AH; Lee SP; Tan ES; Jamuar SS; Ng IS; Tan EC
    Hum Genomics; 2015 Dec; 9():33. PubMed ID: 26666243
    [TBL] [Abstract][Full Text] [Related]  

  • 19. ICO amplicon NGS data analysis: a Web tool for variant detection in common high-risk hereditary cancer genes analyzed by amplicon GS Junior next-generation sequencing.
    Lopez-Doriga A; Feliubadaló L; Menéndez M; Lopez-Doriga S; Morón-Duran FD; del Valle J; Tornero E; Montes E; Cuesta R; Campos O; Gómez C; Pineda M; González S; Moreno V; Capellá G; Lázaro C
    Hum Mutat; 2014 Mar; 35(3):271-7. PubMed ID: 24227591
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A targeted gene capture next-generation sequencing panel for genetic screening of newborns.
    Peng Q; Liu G; Zhu P; Wu C; He X; Li W; Rao C; Li S; Lu X
    J Pak Med Assoc; 2020 Oct; 70(10):1789-1794. PubMed ID: 33159754
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.