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 *

169 related articles for article (PubMed ID: 35294448)

  • 1. SavvyCNV: Genome-wide CNV calling from off-target reads.
    Laver TW; De Franco E; Johnson MB; Patel KA; Ellard S; Weedon MN; Flanagan SE; Wakeling MN
    PLoS Comput Biol; 2022 Mar; 18(3):e1009940. PubMed ID: 35294448
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Assessing the reproducibility of exome copy number variations predictions.
    Hong CS; Singh LN; Mullikin JC; Biesecker LG
    Genome Med; 2016 Aug; 8(1):82. PubMed ID: 27503473
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Bamgineer: Introduction of simulated allele-specific copy number variants into exome and targeted sequence data sets.
    Samadian S; Bruce JP; Pugh TJ
    PLoS Comput Biol; 2018 Mar; 14(3):e1006080. PubMed ID: 29590101
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. A Comparison of Tools for Copy-Number Variation Detection in Germline Whole Exome and Whole Genome Sequencing Data.
    Gabrielaite M; Torp MH; Rasmussen MS; Andreu-Sánchez S; Vieira FG; Pedersen CB; Kinalis S; Madsen MB; Kodama M; Demircan GS; Simonyan A; Yde CW; Olsen LR; Marvig RL; Østrup O; Rossing M; Nielsen FC; Winther O; Bagger FO
    Cancers (Basel); 2021 Dec; 13(24):. PubMed ID: 34944901
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Detection of elusive DNA copy-number variations in hereditary disease and cancer through the use of noncoding and off-target sequencing reads.
    Quinodoz M; Kaminska K; Cancellieri F; Han JH; Peter VG; Celik E; Janeschitz-Kriegl L; Schärer N; Hauenstein D; György B; Calzetti G; Hahaut V; Custódio S; Sousa AC; Wada Y; Murakami Y; Fernández AA; Hernández CR; Minguez P; Ayuso C; Nishiguchi KM; Santos C; Santos LC; Tran VH; Vaclavik V; Scholl HPN; Rivolta C
    Am J Hum Genet; 2024 Apr; 111(4):701-713. PubMed ID: 38531366
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Enhanced copy number variants detection from whole-exome sequencing data using EXCAVATOR2.
    D'Aurizio R; Pippucci T; Tattini L; Giusti B; Pellegrini M; Magi A
    Nucleic Acids Res; 2016 Nov; 44(20):e154. PubMed ID: 27507884
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Atlas-CNV: a validated approach to call single-exon CNVs in the eMERGESeq gene panel.
    Chiang T; Liu X; Wu TJ; Hu J; Sedlazeck FJ; White S; Schaid D; Andrade M; Jarvik GP; Crosslin D; Stanaway I; Carrell DS; Connolly JJ; Hakonarson H; Groopman EE; Gharavi AG; Fedotov A; Bi W; Leduc MS; Murdock DR; Jiang Y; Meng L; Eng CM; Wen S; Yang Y; Muzny DM; Boerwinkle E; Salerno W; Venner E; Gibbs RA
    Genet Med; 2019 Sep; 21(9):2135-2144. PubMed ID: 30890783
    [TBL] [Abstract][Full Text] [Related]  

  • 11. ECOLE: Learning to call copy number variants on whole exome sequencing data.
    Mandiracioglu B; Ozden F; Kaynar G; Yilmaz MA; Alkan C; Cicek AE
    Nat Commun; 2024 Jan; 15(1):132. PubMed ID: 38167256
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Polishing copy number variant calls on exome sequencing data via deep learning.
    Özden F; Alkan C; Çiçek AE
    Genome Res; 2022 Jun; 32(6):1170-1182. PubMed ID: 35697522
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Efficient detection of copy-number variations using exome data: Batch- and sex-based analyses.
    Uchiyama Y; Yamaguchi D; Iwama K; Miyatake S; Hamanaka K; Tsuchida N; Aoi H; Azuma Y; Itai T; Saida K; Fukuda H; Sekiguchi F; Sakaguchi T; Lei M; Ohori S; Sakamoto M; Kato M; Koike T; Takahashi Y; Tanda K; Hyodo Y; Honjo RS; Bertola DR; Kim CA; Goto M; Okazaki T; Yamada H; Maegaki Y; Osaka H; Ngu LH; Siew CG; Teik KW; Akasaka M; Doi H; Tanaka F; Goto T; Guo L; Ikegawa S; Haginoya K; Haniffa M; Hiraishi N; Hiraki Y; Ikemoto S; Daida A; Hamano SI; Miura M; Ishiyama A; Kawano O; Kondo A; Matsumoto H; Okamoto N; Okanishi T; Oyoshi Y; Takeshita E; Suzuki T; Ogawa Y; Handa H; Miyazono Y; Koshimizu E; Fujita A; Takata A; Miyake N; Mizuguchi T; Matsumoto N
    Hum Mutat; 2021 Jan; 42(1):50-65. PubMed ID: 33131168
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Evaluation of somatic copy number estimation tools for whole-exome sequencing data.
    Nam JY; Kim NK; Kim SC; Joung JG; Xi R; Lee S; Park PJ; Park WY
    Brief Bioinform; 2016 Mar; 17(2):185-92. PubMed ID: 26210357
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. Detection of clinically relevant copy number variants with whole-exome sequencing.
    de Ligt J; Boone PM; Pfundt R; Vissers LE; Richmond T; Geoghegan J; O'Moore K; de Leeuw N; Shaw C; Brunner HG; Lupski JR; Veltman JA; Hehir-Kwa JY
    Hum Mutat; 2013 Oct; 34(10):1439-48. PubMed ID: 23893877
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease.
    Lemire G; Sanchis-Juan A; Russell K; Baxter S; Chao KR; Singer-Berk M; Groopman E; Wong I; England E; Goodrich J; Pais L; Austin-Tse C; DiTroia S; O'Heir E; Ganesh VS; Wojcik MH; Evangelista E; Snow H; Osei-Owusu I; Fu J; Singh M; Mostovoy Y; Huang S; Garimella K; Kirkham SL; Neil JE; Shao DD; Walsh CA; Argilli E; Le C; Sherr EH; Gleeson JG; Shril S; Schneider R; Hildebrandt F; Sankaran VG; Madden JA; Genetti CA; Beggs AH; Agrawal PB; Bujakowska KM; Place E; Pierce EA; Donkervoort S; Bönnemann CG; Gallacher L; Stark Z; Tan TY; White SM; Töpf A; Straub V; Fleming MD; Pollak MR; Õunap K; Pajusalu S; Donald KA; Bruwer Z; Ravenscroft G; Laing NG; MacArthur DG; Rehm HL; Talkowski ME; Brand H; O'Donnell-Luria A
    Am J Hum Genet; 2024 May; 111(5):863-876. PubMed ID: 38565148
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Germline CNV Detection through Whole-Exome Sequencing (WES) Data Analysis Enhances Resolution of Rare Genetic Diseases.
    Tilemis FN; Marinakis NM; Veltra D; Svingou M; Kekou K; Mitrakos A; Tzetis M; Kosma K; Makrythanasis P; Traeger-Synodinos J; Sofocleous C
    Genes (Basel); 2023 Jul; 14(7):. PubMed ID: 37510394
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. Exome sequence read depth methods for identifying copy number changes.
    Kadalayil L; Rafiq S; Rose-Zerilli MJ; Pengelly RJ; Parker H; Oscier D; Strefford JC; Tapper WJ; Gibson J; Ennis S; Collins A
    Brief Bioinform; 2015 May; 16(3):380-92. PubMed ID: 25169955
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.