BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

281 related articles for article (PubMed ID: 23831772)

  • 1. A practical method to detect SNVs and indels from whole genome and exome sequencing data.
    Shigemizu D; Fujimoto A; Akiyama S; Abe T; Nakano K; Boroevich KA; Yamamoto Y; Furuta M; Kubo M; Nakagawa H; Tsunoda T
    Sci Rep; 2013; 3():2161. PubMed ID: 23831772
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants.
    Belkadi A; Bolze A; Itan Y; Cobat A; Vincent QB; Antipenko A; Shang L; Boisson B; Casanova JL; Abel L
    Proc Natl Acad Sci U S A; 2015 Apr; 112(17):5473-8. PubMed ID: 25827230
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Validated WGS and WES protocols proved saliva-derived gDNA as an equivalent to blood-derived gDNA for clinical and population genomic analyses.
    Kvapilova K; Misenko P; Radvanszky J; Brzon O; Budis J; Gazdarica J; Pos O; Korabecna M; Kasny M; Szemes T; Kvapil P; Paces J; Kozmik Z
    BMC Genomics; 2024 Feb; 25(1):187. PubMed ID: 38365587
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Analytical validation of whole exome and whole genome sequencing for clinical applications.
    Linderman MD; Brandt T; Edelmann L; Jabado O; Kasai Y; Kornreich R; Mahajan M; Shah H; Kasarskis A; Schadt EE
    BMC Med Genomics; 2014 Apr; 7():20. PubMed ID: 24758382
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Archived neonatal dried blood spot samples can be used for accurate whole genome and exome-targeted next-generation sequencing.
    Hollegaard MV; Grauholm J; Nielsen R; Grove J; Mandrup S; Hougaard DM
    Mol Genet Metab; 2013; 110(1-2):65-72. PubMed ID: 23830478
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Comparison of Multi-Sample Variant Calling Methods for Whole Genome Sequencing.
    Nho K; West JD; Li H; Henschel R; Bharthur A; Tavares MC; Saykin AJ
    IEEE Int Conf Systems Biol; 2014 Oct; 2014():59-62. PubMed ID: 26167514
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Reducing INDEL calling errors in whole genome and exome sequencing data.
    Fang H; Wu Y; Narzisi G; O'Rawe JA; Barrón LT; Rosenbaum J; Ronemus M; Iossifov I; Schatz MC; Lyon GJ
    Genome Med; 2014; 6(10):89. PubMed ID: 25426171
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Added Value of Reanalysis of Whole Exome- and Whole Genome Sequencing Data From Patients Suspected of Primary Immune Deficiency Using an Extended Gene Panel and Structural Variation Calling.
    Mørup SB; Nazaryan-Petersen L; Gabrielaite M; Reekie J; Marquart HV; Hartling HJ; Marvig RL; Katzenstein TL; Masmas TN; Lundgren J; Murray DD; Helleberg M; Borgwardt L
    Front Immunol; 2022; 13():906328. PubMed ID: 35874679
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A comparative study of single nucleotide variant detection performance using three massively parallel sequencing methods.
    Trudsø LC; Andersen JD; Jacobsen SB; Christiansen SL; Congost-Teixidor C; Kampmann ML; Morling N
    PLoS One; 2020; 15(9):e0239850. PubMed ID: 32986766
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Performance assessment of variant calling pipelines using human whole exome sequencing and simulated data.
    Kumaran M; Subramanian U; Devarajan B
    BMC Bioinformatics; 2019 Jun; 20(1):342. PubMed ID: 31208315
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Recommendations for whole genome sequencing in diagnostics for rare diseases.
    Souche E; Beltran S; Brosens E; Belmont JW; Fossum M; Riess O; Gilissen C; Ardeshirdavani A; Houge G; van Gijn M; Clayton-Smith J; Synofzik M; de Leeuw N; Deans ZC; Dincer Y; Eck SH; van der Crabben S; Balasubramanian M; Graessner H; Sturm M; Firth H; Ferlini A; Nabbout R; De Baere E; Liehr T; Macek M; Matthijs G; Scheffer H; Bauer P; Yntema HG; Weiss MM
    Eur J Hum Genet; 2022 Sep; 30(9):1017-1021. PubMed ID: 35577938
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Inconsistency and features of single nucleotide variants detected in whole exome sequencing versus transcriptome sequencing: A case study in lung cancer.
    O'Brien TD; Jia P; Xia J; Saxena U; Jin H; Vuong H; Kim P; Wang Q; Aryee MJ; Mino-Kenudson M; Engelman JA; Le LP; Iafrate AJ; Heist RS; Pao W; Zhao Z
    Methods; 2015 Jul; 83():118-27. PubMed ID: 25913717
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A comparison of BeadChip and WGS genotyping outputs using partial validation by sanger sequencing.
    Danilov KA; Nikogosov DA; Musienko SV; Baranova AV
    BMC Genomics; 2020 Sep; 21(Suppl 7):528. PubMed ID: 32912136
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Comparison of genome sequencing and clinical genotyping for pharmacogenes.
    Yang W; Wu G; Broeckel U; Smith CA; Turner V; Haidar CE; Wang S; Carter R; Karol SE; Neale G; Crews KR; Yang JJ; Mullighan CG; Downing JR; Evans WE; Relling MV
    Clin Pharmacol Ther; 2016 Oct; 100(4):380-8. PubMed ID: 27311679
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Comparison and evaluation of two exome capture kits and sequencing platforms for variant calling.
    Zhang G; Wang J; Yang J; Li W; Deng Y; Li J; Huang J; Hu S; Zhang B
    BMC Genomics; 2015 Aug; 16(1):581. PubMed ID: 26242175
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Optimized detection of insertions/deletions (INDELs) in whole-exome sequencing data.
    Kim BY; Park JH; Jo HY; Koo SK; Park MH
    PLoS One; 2017; 12(8):e0182272. PubMed ID: 28792971
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Empirical evaluation of variant calling accuracy using ultra-deep whole-genome sequencing data.
    Kishikawa T; Momozawa Y; Ozeki T; Mushiroda T; Inohara H; Kamatani Y; Kubo M; Okada Y
    Sci Rep; 2019 Feb; 9(1):1784. PubMed ID: 30741997
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Evaluation of whole-genome sequencing of four Chinese crested dogs for variant detection using the ion proton system.
    Viluma A; Sayyab S; Mikko S; Andersson G; Bergström TF
    Canine Genet Epidemiol; 2015; 2():16. PubMed ID: 26457193
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Tool evaluation for the detection of variably sized indels from next generation whole genome and targeted sequencing data.
    Wang N; Lysenkov V; Orte K; Kairisto V; Aakko J; Khan S; Elo LL
    PLoS Comput Biol; 2022 Feb; 18(2):e1009269. PubMed ID: 35176018
    [TBL] [Abstract][Full Text] [Related]  

  • 20. From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability.
    Lindstrand A; Eisfeldt J; Pettersson M; Carvalho CMB; Kvarnung M; Grigelioniene G; Anderlid BM; Bjerin O; Gustavsson P; Hammarsjö A; Georgii-Hemming P; Iwarsson E; Johansson-Soller M; Lagerstedt-Robinson K; Lieden A; Magnusson M; Martin M; Malmgren H; Nordenskjöld M; Norling A; Sahlin E; Stranneheim H; Tham E; Wincent J; Ygberg S; Wedell A; Wirta V; Nordgren A; Lundin J; Nilsson D
    Genome Med; 2019 Nov; 11(1):68. PubMed ID: 31694722
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 15.