These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

194 related articles for article (PubMed ID: 32561899)

  • 1. Evaluation of CNV detection tools for NGS panel data in genetic diagnostics.
    Moreno-Cabrera JM; Del Valle J; Castellanos E; Feliubadaló L; Pineda M; Brunet J; Serra E; Capellà G; Lázaro C; Gel B
    Eur J Hum Genet; 2020 Dec; 28(12):1645-1655. PubMed ID: 32561899
    [TBL] [Abstract][Full Text] [Related]  

  • 2. panelcn.MOPS: Copy-number detection in targeted NGS panel data for clinical diagnostics.
    Povysil G; Tzika A; Vogt J; Haunschmid V; Messiaen L; Zschocke J; Klambauer G; Hochreiter S; Wimmer K
    Hum Mutat; 2017 Jul; 38(7):889-897. PubMed ID: 28449315
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Validation of copy number variation analysis for next-generation sequencing diagnostics.
    Ellingford JM; Campbell C; Barton S; Bhaskar S; Gupta S; Taylor RL; Sergouniotis PI; Horn B; Lamb JA; Michaelides M; Webster AR; Newman WG; Panda B; Ramsden SC; Black GC
    Eur J Hum Genet; 2017 Jun; 25(6):719-724. PubMed ID: 28378820
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. Evaluating the Calling Performance of a Rare Disease NGS Panel for Single Nucleotide and Copy Number Variants.
    Cacheiro P; Ordóñez-Ugalde A; Quintáns B; Piñeiro-Hermida S; Amigo J; García-Murias M; Pascual-Pascual SI; Grandas F; Arpa J; Carracedo A; Sobrido MJ
    Mol Diagn Ther; 2017 Jun; 21(3):303-313. PubMed ID: 28290094
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Accurate clinical detection of exon copy number variants in a targeted NGS panel using DECoN.
    Fowler A; Mahamdallie S; Ruark E; Seal S; Ramsay E; Clarke M; Uddin I; Wylie H; Strydom A; Lunter G; Rahman N
    Wellcome Open Res; 2016 Nov; 1():20. PubMed ID: 28459104
    [No Abstract]   [Full Text] [Related]  

  • 7. isoCNV: in silico optimization of copy number variant detection from targeted or exome sequencing data.
    Barcelona-Cabeza R; Sanseverino W; Aiese Cigliano R
    BMC Bioinformatics; 2021 Oct; 22(1):530. PubMed ID: 34715772
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. CoNVaDING: Single Exon Variation Detection in Targeted NGS Data.
    Johansson LF; van Dijk F; de Boer EN; van Dijk-Bos KK; Jongbloed JD; van der Hout AH; Westers H; Sinke RJ; Swertz MA; Sijmons RH; Sikkema-Raddatz B
    Hum Mutat; 2016 May; 37(5):457-64. PubMed ID: 26864275
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Copy Number Variations (CNVs) Account for 10.8% of Pathogenic Variants in Patients Referred for Hereditary Cancer Testing.
    Agiannitopoulos K; Pepe G; Tsaousis GN; Potska K; Bouzarelou D; Katseli A; Ntogka C; Meintani A; Tsoulos N; Giassas S; Venizelos V; Markopoulos C; Iosifidou R; Karageorgopoulou S; Christodoulou C; Natsiopoulos I; Papazisis K; Vasilaki-Antonatou M; Kabletsas E; Psyrri A; Ziogas D; Lalla E; Koumarianou A; Anastasakou K; Papadimitriou C; Ozmen V; Tansan S; Kaban K; Ozatli T; Eniu DT; Chiorean A; Blidaru A; Rinsma M; Papadopoulou E; Nasioulas G
    Cancer Genomics Proteomics; 2023; 20(5):448-455. PubMed ID: 37643779
    [TBL] [Abstract][Full Text] [Related]  

  • 11. PattRec: An easy-to-use CNV detection tool optimized for targeted NGS assays with diagnostic purposes.
    Roca I; González-Castro L; Maynou J; Palacios L; Fernández H; Couce ML; Fernández-Marmiesse A
    Genomics; 2020 Mar; 112(2):1245-1256. PubMed ID: 31349009
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Screening of CNVs using NGS data improves mutation detection yield and decreases costs in genetic testing for hereditary cancer.
    Moreno-Cabrera JM; Del Valle J; Feliubadaló L; Pineda M; González S; Campos O; Cuesta R; Brunet J; Serra E; Capellà G; Gel B; Lázaro C
    J Med Genet; 2022 Jan; 59(1):75-78. PubMed ID: 33219106
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Clinical Next-Generation Sequencing Pipeline Outperforms a Combined Approach Using Sanger Sequencing and Multiplex Ligation-Dependent Probe Amplification in Targeted Gene Panel Analysis.
    Schenkel LC; Kerkhof J; Stuart A; Reilly J; Eng B; Woodside C; Levstik A; Howlett CJ; Rupar AC; Knoll JHM; Ainsworth P; Waye JS; Sadikovic B
    J Mol Diagn; 2016 Sep; 18(5):657-667. PubMed ID: 27376475
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. 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]  

  • 16. Consistent count region-copy number variation (CCR-CNV): an expandable and robust tool for clinical diagnosis of copy number variation at the exon level using next-generation sequencing data.
    Kim MJ; Lee S; Yun H; Cho SI; Kim B; Lee JS; Chae JH; Sun C; Park SS; Seong MW
    Genet Med; 2022 Mar; 24(3):663-672. PubMed ID: 34906491
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Performance of In Silico Prediction Tools for the Detection of Germline Copy Number Variations in Cancer Predisposition Genes in 4208 Female Index Patients with Familial Breast and Ovarian Cancer.
    Lepkes L; Kayali M; Blümcke B; Weber J; Suszynska M; Schmidt S; Borde J; Klonowska K; Wappenschmidt B; Hauke J; Kozlowski P; Schmutzler RK; Hahnen E; Ernst C
    Cancers (Basel); 2021 Jan; 13(1):. PubMed ID: 33401422
    [TBL] [Abstract][Full Text] [Related]  

  • 18. varAmpliCNV: analyzing variance of amplicons to detect CNVs in targeted NGS data.
    Kumar AA; Loeys B; Van De Beek G; Peeters N; Wuyts W; Van Laer L; Vandeweyer G; Alaerts M
    Bioinformatics; 2023 Jan; 39(1):. PubMed ID: 36440912
    [TBL] [Abstract][Full Text] [Related]  

  • 19. cn.MOPS: mixture of Poissons for discovering copy number variations in next-generation sequencing data with a low false discovery rate.
    Klambauer G; Schwarzbauer K; Mayr A; Clevert DA; Mitterecker A; Bodenhofer U; Hochreiter S
    Nucleic Acids Res; 2012 May; 40(9):e69. PubMed ID: 22302147
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Sanger Confirmation Is Required to Achieve Optimal Sensitivity and Specificity in Next-Generation Sequencing Panel Testing.
    Mu W; Lu HM; Chen J; Li S; Elliott AM
    J Mol Diagn; 2016 Nov; 18(6):923-932. PubMed ID: 27720647
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.