BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

212 related articles for article (PubMed ID: 31786673)

  • 1. Copy number variation profiling in pharmacogenes using panel-based exome resequencing and correlation to human liver expression.
    Tremmel R; Klein K; Battke F; Fehr S; Winter S; Scheurenbrand T; Schaeffeler E; Biskup S; Schwab M; Zanger UM
    Hum Genet; 2020 Feb; 139(2):137-149. PubMed ID: 31786673
    [TBL] [Abstract][Full Text] [Related]  

  • 2. CNV-RF Is a Random Forest-Based Copy Number Variation Detection Method Using Next-Generation Sequencing.
    Onsongo G; Baughn LB; Bower M; Henzler C; Schomaker M; Silverstein KA; Thyagarajan B
    J Mol Diagn; 2016 Nov; 18(6):872-881. PubMed ID: 27597741
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Outlier-based identification of copy number variations using targeted resequencing in a small cohort of patients with Tetralogy of Fallot.
    Bansal V; Dorn C; Grunert M; Klaassen S; Hetzer R; Berger F; Sperling SR
    PLoS One; 2014; 9(1):e85375. PubMed ID: 24400131
    [TBL] [Abstract][Full Text] [Related]  

  • 4. CNV Detection from Exome Sequencing Data in Routine Diagnostics of Rare Genetic Disorders: Opportunities and Limitations.
    Royer-Bertrand B; Cisarova K; Niel-Butschi F; Mittaz-Crettol L; Fodstad H; Superti-Furga A
    Genes (Basel); 2021 Sep; 12(9):. PubMed ID: 34573409
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Novel copy-number variations in pharmacogenes contribute to interindividual differences in drug pharmacokinetics.
    Santos M; Niemi M; Hiratsuka M; Kumondai M; Ingelman-Sundberg M; Lauschke VM; Rodríguez-Antona C
    Genet Med; 2018 Jun; 20(6):622-629. PubMed ID: 29261188
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Free-access copy-number variant detection tools for targeted next-generation sequencing data.
    Roca I; González-Castro L; Fernández H; Couce ML; Fernández-Marmiesse A
    Mutat Res Rev Mutat Res; 2019; 779():114-125. PubMed ID: 31097148
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Evaluation of copy number variant detection from panel-based next-generation sequencing data.
    Yao R; Yu T; Qing Y; Wang J; Shen Y
    Mol Genet Genomic Med; 2019 Jan; 7(1):e00513. PubMed ID: 30565893
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Detection of copy number variations in epilepsy using exome data.
    Tsuchida N; Nakashima M; Kato M; Heyman E; Inui T; Haginoya K; Watanabe S; Chiyonobu T; Morimoto M; Ohta M; Kumakura A; Kubota M; Kumagai Y; Hamano SI; Lourenco CM; Yahaya NA; Ch'ng GS; Ngu LH; Fattal-Valevski A; Weisz Hubshman M; Orenstein N; Marom D; Cohen L; Goldberg-Stern H; Uchiyama Y; Imagawa E; Mizuguchi T; Takata A; Miyake N; Nakajima H; Saitsu H; Miyatake S; Matsumoto N
    Clin Genet; 2018 Mar; 93(3):577-587. PubMed ID: 28940419
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Assessing copy number from exome sequencing and exome array CGH based on CNV spectrum in a large clinical cohort.
    Retterer K; Scuffins J; Schmidt D; Lewis R; Pineda-Alvarez D; Stafford A; Schmidt L; Warren S; Gibellini F; Kondakova A; Blair A; Bale S; Matyakhina L; Meck J; Aradhya S; Haverfield E
    Genet Med; 2015 Aug; 17(8):623-9. PubMed ID: 25356966
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Detection of CNVs in NGS Data Using VS-CNV.
    Fortier N; Rudy G; Scherer A
    Methods Mol Biol; 2018; 1833():115-127. PubMed ID: 30039368
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Accurate in silico confirmation of rare copy number variant calls from exome sequencing data using transfer learning.
    Tan R; Shen Y
    Nucleic Acids Res; 2022 Nov; 50(21):e123. PubMed ID: 36124672
    [TBL] [Abstract][Full Text] [Related]  

  • 12. CoverageMaster: comprehensive CNV detection and visualization from NGS short reads for genetic medicine applications.
    Rapti M; Zouaghi Y; Meylan J; Ranza E; Antonarakis SE; Santoni FA
    Brief Bioinform; 2022 Mar; 23(2):. PubMed ID: 35224620
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Results of next-generation sequencing gene panel diagnostics including copy-number variation analysis in 810 patients suspected of heritable thoracic aortic disorders.
    Overwater E; Marsili L; Baars MJH; Baas AF; van de Beek I; Dulfer E; van Hagen JM; Hilhorst-Hofstee Y; Kempers M; Krapels IP; Menke LA; Verhagen JMA; Yeung KK; Zwijnenburg PJG; Groenink M; van Rijn P; Weiss MM; Voorhoeve E; van Tintelen JP; Houweling AC; Maugeri A
    Hum Mutat; 2018 Sep; 39(9):1173-1192. PubMed ID: 29907982
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Targeted next generation sequencing as a tool for precision medicine.
    Gulilat M; Lamb T; Teft WA; Wang J; Dron JS; Robinson JF; Tirona RG; Hegele RA; Kim RB; Schwarz UI
    BMC Med Genomics; 2019 Jun; 12(1):81. PubMed ID: 31159795
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Efficient detection of chromosome imbalances and single nucleotide variants using targeted sequencing in the clinical setting.
    Villela D; Costa SS; Vianna-Morgante AM; Krepischi ACV; Rosenberg C
    Eur J Med Genet; 2017 Dec; 60(12):667-674. PubMed ID: 28882788
    [TBL] [Abstract][Full Text] [Related]  

  • 16. CNVind: an open source cloud-based pipeline for rare CNVs detection in whole exome sequencing data based on the depth of coverage.
    Kuśmirek W; Nowak R
    BMC Bioinformatics; 2022 Mar; 23(1):85. PubMed ID: 35247967
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A Local Outlier Factor-Based Detection of Copy Number Variations From NGS Data.
    Yuan X; Li J; Bai J; Xi J
    IEEE/ACM Trans Comput Biol Bioinform; 2021; 18(5):1811-1820. PubMed ID: 31880558
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Noise cancellation using total variation for copy number variation detection.
    Zare F; Hosny A; Nabavi S
    BMC Bioinformatics; 2018 Oct; 19(Suppl 11):361. PubMed ID: 30343665
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Preprocessing Sequence Coverage Data for More Precise Detection of Copy Number Variations.
    Zare F; Ansari S; Najarian K; Nabavi S
    IEEE/ACM Trans Comput Biol Bioinform; 2020; 17(3):868-876. PubMed ID: 30222580
    [TBL] [Abstract][Full Text] [Related]  

  • 20. SeqCNV: a novel method for identification of copy number variations in targeted next-generation sequencing data.
    Chen Y; Zhao L; Wang Y; Cao M; Gelowani V; Xu M; Agrawal SA; Li Y; Daiger SP; Gibbs R; Wang F; Chen R
    BMC Bioinformatics; 2017 Mar; 18(1):147. PubMed ID: 28253855
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.