BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

333 related articles for article (PubMed ID: 22850020)

  • 21. Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned.
    Ghaoui R; Cooper ST; Lek M; Jones K; Corbett A; Reddel SW; Needham M; Liang C; Waddell LB; Nicholson G; O'Grady G; Kaur S; Ong R; Davis M; Sue CM; Laing NG; North KN; MacArthur DG; Clarke NF
    JAMA Neurol; 2015 Dec; 72(12):1424-32. PubMed ID: 26436962
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Next generation sequencing in the clinical domain: clinical advantages, practical, and ethical challenges.
    Thompson R; Drew CJ; Thomas RH
    Adv Protein Chem Struct Biol; 2012; 89():27-63. PubMed ID: 23046881
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Exome sequencing explained: a practical guide to its clinical application.
    Seaby EG; Pengelly RJ; Ennis S
    Brief Funct Genomics; 2016 Sep; 15(5):374-84. PubMed ID: 26654982
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Assessing the necessity of confirmatory testing for exome-sequencing results in a clinical molecular diagnostic laboratory.
    Strom SP; Lee H; Das K; Vilain E; Nelson SF; Grody WW; Deignan JL
    Genet Med; 2014 Jul; 16(7):510-5. PubMed ID: 24406459
    [TBL] [Abstract][Full Text] [Related]  

  • 25. 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]  

  • 26. Clinical exome sequencing – Norwegian findings.
    Holla ØL; Busk ØL; Tveten K; Hilmarsen HT; Strand L; Høyer H; Bakken A; Skjelbred CF; Braathen GJ
    Tidsskr Nor Laegeforen; 2015 Nov; 135(20):1833-7. PubMed ID: 26534809
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Exome sequencing: a transient technology for molecular diagnostics?
    Ku CS; Cooper DN
    Expert Rev Mol Diagn; 2012 Apr; 12(3):211-4. PubMed ID: 22468808
    [No Abstract]   [Full Text] [Related]  

  • 28. Integrating next-generation sequencing into the diagnostic testing of inherited cancer predisposition.
    Ku CS; Cooper DN; Iacopetta B; Roukos DH
    Clin Genet; 2013 Jan; 83(1):2-6. PubMed ID: 23020236
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Exome versus transcriptome sequencing in identifying coding region variants.
    Ku CS; Wu M; Cooper DN; Naidoo N; Pawitan Y; Pang B; Iacopetta B; Soong R
    Expert Rev Mol Diagn; 2012 Apr; 12(3):241-51. PubMed ID: 22468815
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Application of next generation sequencing to molecular diagnosis of inherited diseases.
    Zhang W; Cui H; Wong LJ
    Top Curr Chem; 2014; 336():19-45. PubMed ID: 22576358
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Lake Louise mutation detection meeting 2013: clinical translation of next-generation sequencing requires optimization of workflows and interpretation of variants.
    Smith A; Boycott KM; Jarinova O
    Hum Mutat; 2014 Feb; 35(2):265-9. PubMed ID: 24282140
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Next-generation sequencing - feasibility and practicality in haematology.
    Kohlmann A; Grossmann V; Nadarajah N; Haferlach T
    Br J Haematol; 2013 Mar; 160(6):736-53. PubMed ID: 23294427
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Progress in detecting genetic alterations and their association with human disease.
    Schwartz CE; Chen CF
    J Mol Biol; 2013 Nov; 425(21):3914-8. PubMed ID: 23876707
    [TBL] [Abstract][Full Text] [Related]  

  • 34. 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]  

  • 35. Clinical exome sequencing-Mistakes and caveats.
    Corominas J; Smeekens SP; Nelen MR; Yntema HG; Kamsteeg EJ; Pfundt R; Gilissen C
    Hum Mutat; 2022 Aug; 43(8):1041-1055. PubMed ID: 35191116
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Targeted next-generation sequencing identifies pathogenic variants in familial congenital heart disease.
    Blue GM; Kirk EP; Giannoulatou E; Dunwoodie SL; Ho JW; Hilton DC; White SM; Sholler GF; Harvey RP; Winlaw DS
    J Am Coll Cardiol; 2014 Dec; 64(23):2498-506. PubMed ID: 25500235
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Evolution of DNA sequencing.
    Tipu HN; Shabbir A
    J Coll Physicians Surg Pak; 2015 Mar; 25(3):210-5. PubMed ID: 25772964
    [TBL] [Abstract][Full Text] [Related]  

  • 38. The Rise and Rise of Exome Sequencing.
    Ku CS; Cooper DN; Patrinos GP
    Public Health Genomics; 2016; 19(6):315-324. PubMed ID: 27898412
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Clinical sequencing: is WGS the better WES?
    Meienberg J; Bruggmann R; Oexle K; Matyas G
    Hum Genet; 2016 Mar; 135(3):359-62. PubMed ID: 26742503
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.
    Punetha J; Kesari A; Uapinyoying P; Giri M; Clarke NF; Waddell LB; North KN; Ghaoui R; O'Grady GL; Oates EC; Sandaradura SA; Bönnemann CG; Donkervoort S; Plotz PH; Smith EC; Tesi-Rocha C; Bertorini TE; Tarnopolsky MA; Reitter B; Hausmanowa-Petrusewicz I; Hoffman EP
    J Neuromuscul Dis; 2016 May; 3(2):209-225. PubMed ID: 27854218
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 17.