BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

137 related articles for article (PubMed ID: 29269280)

  • 1. Conventional and Single-Molecule Targeted Sequencing Method for Specific Variant Detection in IKBKG while Bypassing the IKBKGP1 Pseudogene.
    Frans G; Meert W; Van der Werff Ten Bosch J; Meyts I; Bossuyt X; Vermeesch JR; Hestand MS
    J Mol Diagn; 2018 Mar; 20(2):195-202. PubMed ID: 29269280
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Comparison and evaluation of two exome capture kits and sequencing platforms for variant calling.
    Zhang G; Wang J; Yang J; Li W; Deng Y; Li J; Huang J; Hu S; Zhang B
    BMC Genomics; 2015 Aug; 16(1):581. PubMed ID: 26242175
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Rare variants in MYD88, IRAK4 and IKBKG and susceptibility to invasive pneumococcal disease: a population-based case-control study.
    Ellis MK; Elliott KS; Rautanen A; Crook DW; Hill AV; Chapman SJ
    PLoS One; 2015; 10(4):e0123532. PubMed ID: 25886387
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Detecting clinically actionable variants in the 3' exons of PMS2 via a reflex workflow based on equivalent hybrid capture of the gene and its pseudogene.
    Gould GM; Grauman PV; Theilmann MR; Spurka L; Wang IE; Melroy LM; Chin RG; Hite DH; Chu CS; Maguire JR; Hogan GJ; Muzzey D
    BMC Med Genet; 2018 Sep; 19(1):176. PubMed ID: 30268105
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Functional assessment of the mutational effects of human IRAK4 and MyD88 genes.
    Yamamoto T; Tsutsumi N; Tochio H; Ohnishi H; Kubota K; Kato Z; Shirakawa M; Kondo N
    Mol Immunol; 2014 Mar; 58(1):66-76. PubMed ID: 24316379
    [TBL] [Abstract][Full Text] [Related]  

  • 6. tarSVM: Improving the accuracy of variant calls derived from microfluidic PCR-based targeted next generation sequencing using a support vector machine.
    Gillies CE; Otto EA; Vega-Warner V; Robertson CC; Sanna-Cherchi S; Gharavi A; Crawford B; Bhimma R; Winkler C; ; ; Kang HM; Sampson MG
    BMC Bioinformatics; 2016 Jun; 17(1):233. PubMed ID: 27287006
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Dealing with pseudogenes in molecular diagnostics in the next-generation sequencing era.
    Claes KB; De Leeneer K
    Methods Mol Biol; 2014; 1167():303-15. PubMed ID: 24823787
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Orthogonal NGS for High Throughput Clinical Diagnostics.
    Chennagiri N; White EJ; Frieden A; Lopez E; Lieber DS; Nikiforov A; Ross T; Batorsky R; Hansen S; Lip V; Luquette LJ; Mauceli E; Margulies D; Milos PM; Napolitano N; Nizzari MM; Yu T; Thompson JF
    Sci Rep; 2016 Apr; 6():24650. PubMed ID: 27090146
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Whole-genome sequencing overcomes pseudogene homology to diagnose autosomal dominant polycystic kidney disease.
    Mallawaarachchi AC; Hort Y; Cowley MJ; McCabe MJ; Minoche A; Dinger ME; Shine J; Furlong TJ
    Eur J Hum Genet; 2016 Nov; 24(11):1584-1590. PubMed ID: 27165007
    [TBL] [Abstract][Full Text] [Related]  

  • 10. An efficient molecular genetic testing strategy for incontinentia pigmenti based on single-tube long fragment read sequencing.
    Chen M; Tan MH; Liu J; Yang YM; Yu JL; He LJ; Huang YZ; Sun YX; Qian YQ; Yan K; Dong MY
    NPJ Genom Med; 2024 May; 9(1):32. PubMed ID: 38811629
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Misidentification of
    Bowler TG; Pradhan K; Kong Y; Bartenstein M; Morrone KA; Sridharan A; Kessel RM; Shastri A; Giricz O; Bhagat TD; Gordon-Mitchell S; Rohanizadegan M; Hooda L; Datt I; Przychodzen BP; Parmar S; Maqbool S; Maciejewski JP; Steidl U; Greally JM; Verma A
    Leuk Lymphoma; 2019 Dec; 60(13):3132-3137. PubMed ID: 31288594
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Approaches to long-read sequencing in a clinical setting to improve diagnostic rate.
    Sanford Kobayashi E; Batalov S; Wenger AM; Lambert C; Dhillon H; Hall RJ; Baybayan P; Ding Y; Rego S; Wigby K; Friedman J; Hobbs C; Bainbridge MN
    Sci Rep; 2022 Oct; 12(1):16945. PubMed ID: 36210382
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Evaluation of exome variants using the Ion Proton Platform to sequence error-prone regions.
    Seo H; Park Y; Min BJ; Seo ME; Kim JH
    PLoS One; 2017; 12(7):e0181304. PubMed ID: 28742110
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Dealing with Pseudogenes in Molecular Diagnostics in the Next Generation Sequencing Era.
    Claes KBM; Rosseel T; De Leeneer K
    Methods Mol Biol; 2021; 2324():363-381. PubMed ID: 34165726
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Translating sanger-based routine DNA diagnostics into generic massive parallel ion semiconductor sequencing.
    Diekstra A; Bosgoed E; Rikken A; van Lier B; Kamsteeg EJ; Tychon M; Derks RC; van Soest RA; Mensenkamp AR; Scheffer H; Neveling K; Nelen MR
    Clin Chem; 2015 Jan; 61(1):154-62. PubMed ID: 25274553
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Assessment of target enrichment platforms using massively parallel sequencing for the mutation detection for congenital muscular dystrophy.
    Valencia CA; Rhodenizer D; Bhide S; Chin E; Littlejohn MR; Keong LM; Rutkowski A; Bonnemann C; Hegde M
    J Mol Diagn; 2012; 14(3):233-46. PubMed ID: 22426012
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Processed Pseudogene Confounding Deletion/Duplication Assays for SMAD4.
    Millson A; Lewis T; Pesaran T; Salvador D; Gillespie K; Gau CL; Pont-Kingdon G; Lyon E; Bayrak-Toydemir P
    J Mol Diagn; 2015 Sep; 17(5):576-82. PubMed ID: 26165824
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Preparing a re-sequencing DNA library of 2 cancer candidate genes using the ligation-by-amplification protocol by two PCR reactions.
    Su Y; Lin L; Tian G; Chen C; Liu T; Xu X; Qi X; Zhang X; Yang H
    Sci China C Life Sci; 2009 May; 52(5):483-91. PubMed ID: 19471873
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Targeted next-generation sequencing revealed MYD88 deficiency in a child with chronic yersiniosis and granulomatous lymphadenitis.
    Giardino G; Gallo V; Somma D; Farrow EG; Thiffault I; D'Assante R; Donofrio V; Paciolla M; Ursini MV; Leonardi A; Saunders CJ; Pignata C
    J Allergy Clin Immunol; 2016 May; 137(5):1591-1595.e4. PubMed ID: 26632527
    [No Abstract]   [Full Text] [Related]  

  • 20. Assessment of Capture and Amplicon-Based Approaches for the Development of a Targeted Next-Generation Sequencing Pipeline to Personalize Lymphoma Management.
    Hung SS; Meissner B; Chavez EA; Ben-Neriah S; Ennishi D; Jones MR; Shulha HP; Chan FC; Boyle M; Kridel R; Gascoyne RD; Mungall AJ; Marra MA; Scott DW; Connors JM; Steidl C
    J Mol Diagn; 2018 Mar; 20(2):203-214. PubMed ID: 29429887
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.