BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

422 related articles for article (PubMed ID: 26088785)

  • 1. Exome sequencing and whole genome sequencing for the detection of copy number variation.
    Hehir-Kwa JY; Pfundt R; Veltman JA
    Expert Rev Mol Diagn; 2015; 15(8):1023-32. PubMed ID: 26088785
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Combinatorial approach to estimate copy number genotype using whole-exome sequencing data.
    Hwang MY; Moon S; Heo L; Kim YJ; Oh JH; Kim YJ; Kim YK; Lee J; Han BG; Kim BJ
    Genomics; 2015 Mar; 105(3):145-9. PubMed ID: 25535679
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. An evaluation of copy number variation detection tools for cancer using whole exome sequencing data.
    Zare F; Dow M; Monteleone N; Hosny A; Nabavi S
    BMC Bioinformatics; 2017 May; 18(1):286. PubMed ID: 28569140
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.
    Pfundt R; Del Rosario M; Vissers LELM; Kwint MP; Janssen IM; de Leeuw N; Yntema HG; Nelen MR; Lugtenberg D; Kamsteeg EJ; Wieskamp N; Stegmann APA; Stevens SJC; Rodenburg RJT; Simons A; Mensenkamp AR; Rinne T; Gilissen C; Scheffer H; Veltman JA; Hehir-Kwa JY
    Genet Med; 2017 Jun; 19(6):667-675. PubMed ID: 28574513
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. The diagnostic yield of intellectual disability: combined whole genome low-coverage sequencing and medical exome sequencing.
    Wang J; Wang Y; Wang L; Chen WY; Sheng M
    BMC Med Genomics; 2020 May; 13(1):70. PubMed ID: 32429945
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. Determining multiallelic complex copy number and sequence variation from high coverage exome sequencing data.
    Forni D; Martin D; Abujaber R; Sharp AJ; Sironi M; Hollox EJ
    BMC Genomics; 2015 Nov; 16():891. PubMed ID: 26526070
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Comparative analysis of methods for identifying somatic copy number alterations from deep sequencing data.
    Alkodsi A; Louhimo R; Hautaniemi S
    Brief Bioinform; 2015 Mar; 16(2):242-54. PubMed ID: 24599115
    [TBL] [Abstract][Full Text] [Related]  

  • 11. DeAnnCNV: a tool for online detection and annotation of copy number variations from whole-exome sequencing data.
    Zhang Y; Yu Z; Ban R; Zhang H; Iqbal F; Zhao A; Li A; Shi Q
    Nucleic Acids Res; 2015 Jul; 43(W1):W289-94. PubMed ID: 26013811
    [TBL] [Abstract][Full Text] [Related]  

  • 12. The clinical implementation of copy number detection in the age of next-generation sequencing.
    Hehir-Kwa JY; Tops BBJ; Kemmeren P
    Expert Rev Mol Diagn; 2018 Oct; 18(10):907-915. PubMed ID: 30221560
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Identification of Copy Number Alterations from Next-Generation Sequencing Data.
    Nabavi S; Zare F
    Adv Exp Med Biol; 2022; 1361():55-74. PubMed ID: 35230683
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A survey of tools for variant analysis of next-generation genome sequencing data.
    Pabinger S; Dander A; Fischer M; Snajder R; Sperk M; Efremova M; Krabichler B; Speicher MR; Zschocke J; Trajanoski Z
    Brief Bioinform; 2014 Mar; 15(2):256-78. PubMed ID: 23341494
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Concurrent exome-targeted next-generation sequencing and single nucleotide polymorphism array to identify the causative genetic aberrations of isolated Mayer-Rokitansky-Küster-Hauser syndrome.
    Chen MJ; Wei SY; Yang WS; Wu TT; Li HY; Ho HN; Yang YS; Chen PL
    Hum Reprod; 2015 Jul; 30(7):1732-42. PubMed ID: 25924657
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Genome arrays for the detection of copy number variations in idiopathic mental retardation, idiopathic generalized epilepsy and neuropsychiatric disorders: lessons for diagnostic workflow and research.
    Hochstenbach R; Buizer-Voskamp JE; Vorstman JA; Ophoff RA
    Cytogenet Genome Res; 2011; 135(3-4):174-202. PubMed ID: 22056632
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. CODEX: a normalization and copy number variation detection method for whole exome sequencing.
    Jiang Y; Oldridge DA; Diskin SJ; Zhang NR
    Nucleic Acids Res; 2015 Mar; 43(6):e39. PubMed ID: 25618849
    [TBL] [Abstract][Full Text] [Related]  

  • 19. An evaluation of copy number variation detection tools from whole-exome sequencing data.
    Tan R; Wang Y; Kleinstein SE; Liu Y; Zhu X; Guo H; Jiang Q; Allen AS; Zhu M
    Hum Mutat; 2014 Jul; 35(7):899-907. PubMed ID: 24599517
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Using SAAS-CNV to Detect and Characterize Somatic Copy Number Alterations in Cancer Genomes from Next Generation Sequencing and SNP Array Data.
    Zhang Z; Hao K
    Methods Mol Biol; 2018; 1833():29-47. PubMed ID: 30039361
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 22.