BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

124 related articles for article (PubMed ID: 35476365)

  • 1. Short amplicon reverse transcription-polymerase chain reaction detects aberrant splicing in genes with low expression in blood missed by ribonucleic acid sequencing analysis for clinical diagnosis.
    Wai HA; Constable M; Drewes C; Davies IC; Svobodova E; Dempsey E; Saggar A; Homfray T; Mansour S; Douzgou S; Barr K; Mercer C; Hunt D; Douglas AGL; Baralle D
    Hum Mutat; 2022 Jul; 43(7):963-970. PubMed ID: 35476365
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance.
    Wai HA; Lord J; Lyon M; Gunning A; Kelly H; Cibin P; Seaby EG; Spiers-Fitzgerald K; Lye J; Ellard S; Thomas NS; Bunyan DJ; Douglas AGL; Baralle D;
    Genet Med; 2020 Jun; 22(6):1005-1014. PubMed ID: 32123317
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Unproductive alternative splicing and nonsense mRNAs: a widespread phenomenon among plant circadian clock genes.
    Filichkin SA; Mockler TC
    Biol Direct; 2012 Jul; 7():20. PubMed ID: 22747664
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Aberrant splicing events caused by insertion of genes of interest into expression vectors.
    Cheng Y; Kang XZ; Chan P; Ye ZW; Chan CP; Jin DY
    Int J Biol Sci; 2022; 18(13):4914-4931. PubMed ID: 35982889
    [No Abstract]   [Full Text] [Related]  

  • 5. Mapping RNA splicing variations in clinically accessible and nonaccessible tissues to facilitate Mendelian disease diagnosis using RNA-seq.
    Aicher JK; Jewell P; Vaquero-Garcia J; Barash Y; Bhoj EJ
    Genet Med; 2020 Jul; 22(7):1181-1190. PubMed ID: 32225167
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Gene expression and splicing alterations analyzed by high throughput RNA sequencing of chronic lymphocytic leukemia specimens.
    Liao W; Jordaan G; Nham P; Phan RT; Pelegrini M; Sharma S
    BMC Cancer; 2015 Oct; 15():714. PubMed ID: 26474785
    [TBL] [Abstract][Full Text] [Related]  

  • 7. AtRTD - a comprehensive reference transcript dataset resource for accurate quantification of transcript-specific expression in Arabidopsis thaliana.
    Zhang R; Calixto CP; Tzioutziou NA; James AB; Simpson CG; Guo W; Marquez Y; Kalyna M; Patro R; Eyras E; Barta A; Nimmo HG; Brown JW
    New Phytol; 2015 Oct; 208(1):96-101. PubMed ID: 26111100
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Differentially expressed alternatively spliced genes in malignant pleural mesothelioma identified using massively parallel transcriptome sequencing.
    Dong L; Jensen RV; De Rienzo A; Gordon GJ; Xu Y; Sugarbaker DJ; Bueno R
    BMC Med Genet; 2009 Dec; 10():149. PubMed ID: 20043850
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Read-Split-Run: an improved bioinformatics pipeline for identification of genome-wide non-canonical spliced regions using RNA-Seq data.
    Bai Y; Kinne J; Donham B; Jiang F; Ding L; Hassler JR; Kaufman RJ
    BMC Genomics; 2016 Aug; 17 Suppl 7(Suppl 7):503. PubMed ID: 27556805
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Functional classification of DNA variants by hybrid minigenes: Identification of 30 spliceogenic variants of BRCA2 exons 17 and 18.
    Fraile-Bethencourt E; Díez-Gómez B; Velásquez-Zapata V; Acedo A; Sanz DJ; Velasco EA
    PLoS Genet; 2017 Mar; 13(3):e1006691. PubMed ID: 28339459
    [TBL] [Abstract][Full Text] [Related]  

  • 11. PrimerSeq: Design and visualization of RT-PCR primers for alternative splicing using RNA-seq data.
    Tokheim C; Park JW; Xing Y
    Genomics Proteomics Bioinformatics; 2014 Apr; 12(2):105-9. PubMed ID: 24747190
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Methods for Characterization of Alternative RNA Splicing.
    Harvey SE; Cheng C
    Methods Mol Biol; 2016; 1402():229-241. PubMed ID: 26721495
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Three new alternative splicing variants of human cytochrome P450 2D6 mRNA in human extratumoral liver tissue.
    Zhuge J; Yu YN
    World J Gastroenterol; 2004 Nov; 10(22):3356-60. PubMed ID: 15484318
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Spectrum of splicing variants in disease genes and the ability of RNA analysis to reduce uncertainty in clinical interpretation.
    Truty R; Ouyang K; Rojahn S; Garcia S; Colavin A; Hamlington B; Freivogel M; Nussbaum RL; Nykamp K; Aradhya S
    Am J Hum Genet; 2021 Apr; 108(4):696-708. PubMed ID: 33743207
    [TBL] [Abstract][Full Text] [Related]  

  • 15. RNA splicing analysis contributes to reclassifying variants of uncertain significance and improves the diagnosis of monogenic disorders.
    He WB; Xiao WJ; Dai CL; Wang YR; Li XR; Gong F; Meng LL; Tan C; Zeng SC; Lu GX; Lin G; Tan YQ; Hu H; Du J
    J Med Genet; 2022 Oct; 59(10):1010-1016. PubMed ID: 35121647
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Alternative splicing and differential gene expression in colon cancer detected by a whole genome exon array.
    Gardina PJ; Clark TA; Shimada B; Staples MK; Yang Q; Veitch J; Schweitzer A; Awad T; Sugnet C; Dee S; Davies C; Williams A; Turpaz Y
    BMC Genomics; 2006 Dec; 7():325. PubMed ID: 17192196
    [TBL] [Abstract][Full Text] [Related]  

  • 17. MATS: a Bayesian framework for flexible detection of differential alternative splicing from RNA-Seq data.
    Shen S; Park JW; Huang J; Dittmar KA; Lu ZX; Zhou Q; Carstens RP; Xing Y
    Nucleic Acids Res; 2012 Apr; 40(8):e61. PubMed ID: 22266656
    [TBL] [Abstract][Full Text] [Related]  

  • 18. PacBio full-length cDNA sequencing integrated with RNA-seq reads drastically improves the discovery of splicing transcripts in rice.
    Zhang G; Sun M; Wang J; Lei M; Li C; Zhao D; Huang J; Li W; Li S; Li J; Yang J; Luo Y; Hu S; Zhang B
    Plant J; 2019 Jan; 97(2):296-305. PubMed ID: 30288819
    [TBL] [Abstract][Full Text] [Related]  

  • 19. RT-PCR analysis of mRNA revealed the splice-altering effect of rare intronic variants in monogenic disorders.
    Zhang X; Qiu W; Liu H; Ye X; Sun Y; Fan Y; Yu Y
    Ann Hum Genet; 2020 Nov; 84(6):456-462. PubMed ID: 32776513
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Screening BRCA1 and BRCA2 unclassified variants for splicing mutations using reverse transcription PCR on patient RNA and an ex vivo assay based on a splicing reporter minigene.
    Bonnet C; Krieger S; Vezain M; Rousselin A; Tournier I; Martins A; Berthet P; Chevrier A; Dugast C; Layet V; Rossi A; Lidereau R; Frébourg T; Hardouin A; Tosi M
    J Med Genet; 2008 Jul; 45(7):438-46. PubMed ID: 18424508
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.