BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

334 related articles for article (PubMed ID: 22850020)

  • 61. Opportunities and technical challenges in next-generation sequencing for diagnosis of rare pediatric diseases.
    Bacchelli C; Williams HJ
    Expert Rev Mol Diagn; 2016 Oct; 16(10):1073-1082. PubMed ID: 27560481
    [TBL] [Abstract][Full Text] [Related]  

  • 62. ACMG clinical laboratory standards for next-generation sequencing.
    Rehm HL; Bale SJ; Bayrak-Toydemir P; Berg JS; Brown KK; Deignan JL; Friez MJ; Funke BH; Hegde MR; Lyon E;
    Genet Med; 2013 Sep; 15(9):733-47. PubMed ID: 23887774
    [TBL] [Abstract][Full Text] [Related]  

  • 63. Candidate gene discovery in autoimmunity by using extreme phenotypes, next generation sequencing and whole exome capture.
    Johar AS; Anaya JM; Andrews D; Patel HR; Field M; Goodnow C; Arcos-Burgos M
    Autoimmun Rev; 2015 Mar; 14(3):204-9. PubMed ID: 25447288
    [TBL] [Abstract][Full Text] [Related]  

  • 64. Challenges in the diagnosis and discovery of rare genetic disorders using contemporary sequencing technologies.
    Seaby EG; Ennis S
    Brief Funct Genomics; 2020 Jul; 19(4):243-258. PubMed ID: 32393978
    [TBL] [Abstract][Full Text] [Related]  

  • 65. Evaluating the Transition from Targeted to Exome Sequencing: A Guide for Clinical Laboratories.
    Yauy K; Van Goethem C; Pégeot H; Baux D; Guignard T; Thèze C; Ardouin O; Roux AF; Koenig M; Bergougnoux A; Cossée M
    Int J Mol Sci; 2023 Apr; 24(8):. PubMed ID: 37108493
    [TBL] [Abstract][Full Text] [Related]  

  • 66. Case-only exome sequencing and complex disease susceptibility gene discovery: study design considerations.
    Wu L; Schaid DJ; Sicotte H; Wieben ED; Li H; Petersen GM
    J Med Genet; 2015 Jan; 52(1):10-6. PubMed ID: 25371537
    [TBL] [Abstract][Full Text] [Related]  

  • 67. Evaluation of exome filtering techniques for the analysis of clinically relevant genes.
    Kernohan KD; Hartley T; Alirezaie N; ; Robinson PN; Dyment DA; Boycott KM
    Hum Mutat; 2018 Feb; 39(2):197-201. PubMed ID: 29193559
    [TBL] [Abstract][Full Text] [Related]  

  • 68. Leveraging the power of high performance computing for next generation sequencing data analysis: tricks and twists from a high throughput exome workflow.
    Kawalia A; Motameny S; Wonczak S; Thiele H; Nieroda L; Jabbari K; Borowski S; Sinha V; Gunia W; Lang U; Achter V; Nürnberg P
    PLoS One; 2015; 10(5):e0126321. PubMed ID: 25942438
    [TBL] [Abstract][Full Text] [Related]  

  • 69. Brief Summary of the Most Important Molecular Genetic Methods (PCR, qPCR, Microarray, Next-Generation Sequencing, etc.).
    Butz H; Patócs A
    Exp Suppl; 2019; 111():33-52. PubMed ID: 31588527
    [TBL] [Abstract][Full Text] [Related]  

  • 70. Single-Molecule Sequencing: Towards Clinical Applications.
    Ameur A; Kloosterman WP; Hestand MS
    Trends Biotechnol; 2019 Jan; 37(1):72-85. PubMed ID: 30115375
    [TBL] [Abstract][Full Text] [Related]  

  • 71. Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders.
    Fokstuen S; Makrythanasis P; Hammar E; Guipponi M; Ranza E; Varvagiannis K; Santoni FA; Albarca-Aguilera M; Poleggi ME; Couchepin F; Brockmann C; Mauron A; Hurst SA; Moret C; Gehrig C; Vannier A; Bevillard J; Araud T; Gimelli S; Stathaki E; Paoloni-Giacobino A; Bottani A; Sloan-Béna F; Sizonenko LD; Mostafavi M; Hamamy H; Nouspikel T; Blouin JL; Antonarakis SE
    Hum Genomics; 2016 Jun; 10(1):24. PubMed ID: 27353043
    [TBL] [Abstract][Full Text] [Related]  

  • 72. Genome-scale sequencing to identify genes involved in Mendelian disorders.
    Markello TC; Adams DR
    Curr Protoc Hum Genet; 2013 Oct; 79():6.13.1-6.13.19. PubMed ID: 24510651
    [TBL] [Abstract][Full Text] [Related]  

  • 73. New approaches to molecular diagnosis.
    Korf BR; Rehm HL
    JAMA; 2013 Apr; 309(14):1511-21. PubMed ID: 23571590
    [TBL] [Abstract][Full Text] [Related]  

  • 74. Methods for Target Enrichment Sequencing via Probe Capture in Legumes.
    Peng Z; Paudel D; Wang L; Luo Z; You Q; Wang J
    Methods Mol Biol; 2020; 2107():199-231. PubMed ID: 31893449
    [TBL] [Abstract][Full Text] [Related]  

  • 75. Next-generation diagnostics and disease-gene discovery with the Exomiser.
    Smedley D; Jacobsen JO; Jäger M; Köhler S; Holtgrewe M; Schubach M; Siragusa E; Zemojtel T; Buske OJ; Washington NL; Bone WP; Haendel MA; Robinson PN
    Nat Protoc; 2015 Dec; 10(12):2004-15. PubMed ID: 26562621
    [TBL] [Abstract][Full Text] [Related]  

  • 76. Interrogating Pharmacogenetics Using Next-Generation Sequencing.
    Ji Y; Shaaban S
    J Appl Lab Med; 2024 Jan; 9(1):50-60. PubMed ID: 38167765
    [TBL] [Abstract][Full Text] [Related]  

  • 77. Insights from exome sequencing for endocrine disorders.
    de Bruin C; Dauber A
    Nat Rev Endocrinol; 2015 Aug; 11(8):455-64. PubMed ID: 25963271
    [TBL] [Abstract][Full Text] [Related]  

  • 78. Good laboratory practice for clinical next-generation sequencing informatics pipelines.
    Gargis AS; Kalman L; Bick DP; da Silva C; Dimmock DP; Funke BH; Gowrisankar S; Hegde MR; Kulkarni S; Mason CE; Nagarajan R; Voelkerding KV; Worthey EA; Aziz N; Barnes J; Bennett SF; Bisht H; Church DM; Dimitrova Z; Gargis SR; Hafez N; Hambuch T; Hyland FC; Luna RA; MacCannell D; Mann T; McCluskey MR; McDaniel TK; Ganova-Raeva LM; Rehm HL; Reid J; Campo DS; Resnick RB; Ridge PG; Salit ML; Skums P; Wong LJ; Zehnbauer BA; Zook JM; Lubin IM
    Nat Biotechnol; 2015 Jul; 33(7):689-93. PubMed ID: 26154004
    [No Abstract]   [Full Text] [Related]  

  • 79. ClinLabGeneticist: a tool for clinical management of genetic variants from whole exome sequencing in clinical genetic laboratories.
    Wang J; Liao J; Zhang J; Cheng WY; Hakenberg J; Ma M; Webb BD; Ramasamudram-Chakravarthi R; Karger L; Mehta L; Kornreich R; Diaz GA; Li S; Edelmann L; Chen R
    Genome Med; 2015 Jul; 7(1):77. PubMed ID: 26338694
    [TBL] [Abstract][Full Text] [Related]  

  • 80. Unsolved challenges of clinical whole-exome sequencing: a systematic literature review of end-users' views.
    Bertier G; Hétu M; Joly Y
    BMC Med Genomics; 2016 Aug; 9(1):52. PubMed ID: 27514372
    [TBL] [Abstract][Full Text] [Related]  

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