BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

217 related articles for article (PubMed ID: 33632298)

  • 1. ClinSV: clinical grade structural and copy number variant detection from whole genome sequencing data.
    Minoche AE; Lundie B; Peters GB; Ohnesorg T; Pinese M; Thomas DM; Zankl A; Roscioli T; Schonrock N; Kummerfeld S; Burnett L; Dinger ME; Cowley MJ
    Genome Med; 2021 Feb; 13(1):32. PubMed ID: 33632298
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A Comprehensive Workflow for Read Depth-Based Identification of Copy-Number Variation from Whole-Genome Sequence Data.
    Trost B; Walker S; Wang Z; Thiruvahindrapuram B; MacDonald JR; Sung WWL; Pereira SL; Whitney J; Chan AJS; Pellecchia G; Reuter MS; Lok S; Yuen RKC; Marshall CR; Merico D; Scherer SW
    Am J Hum Genet; 2018 Jan; 102(1):142-155. PubMed ID: 29304372
    [TBL] [Abstract][Full Text] [Related]  

  • 3. SCIP: software for efficient clinical interpretation of copy number variants detected by whole-genome sequencing.
    Ding Q; Somerville C; Manshaei R; Trost B; Reuter MS; Kalbfleisch K; Stanley K; Okello JBA; Hosseini SM; Liston E; Curtis M; Zarrei M; Higginbotham EJ; Chan AJS; Engchuan W; Thiruvahindrapuram B; Scherer SW; Kim RH; Jobling RK
    Hum Genet; 2023 Feb; 142(2):201-216. PubMed ID: 36376761
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Low-pass whole genome sequencing is a reliable and cost-effective approach for copy number variant analysis in the clinical setting.
    Mazzonetto PC; Villela D; da Costa SS; Krepischi ACV; Milanezi F; Migliavacca MP; Pierry PM; Bonaldi A; Almeida LGD; De Souza CA; Kroll JE; Paula MG; Guarischi-Sousa R; Scapulatempo-Neto C; Rosenberg C
    Ann Hum Genet; 2024 Mar; 88(2):113-125. PubMed ID: 37807935
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease.
    Gross AM; Ajay SS; Rajan V; Brown C; Bluske K; Burns NJ; Chawla A; Coffey AJ; Malhotra A; Scocchia A; Thorpe E; Dzidic N; Hovanes K; Sahoo T; Dolzhenko E; Lajoie B; Khouzam A; Chowdhury S; Belmont J; Roller E; Ivakhno S; Tanner S; McEachern J; Hambuch T; Eberle M; Hagelstrom RT; Bentley DR; Perry DL; Taft RJ
    Genet Med; 2019 May; 21(5):1121-1130. PubMed ID: 30293986
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Diagnostic and clinical utility of whole genome sequencing in a cohort of undiagnosed Chinese families with rare diseases.
    Liu HY; Zhou L; Zheng MY; Huang J; Wan S; Zhu A; Zhang M; Dong A; Hou L; Li J; Xu H; Lu B; Lu W; Liu P; Lu Y
    Sci Rep; 2019 Dec; 9(1):19365. PubMed ID: 31852928
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. JAX-CNV: A Whole-genome Sequencing-based Algorithm for Copy Number Detection at Clinical Grade Level.
    Lee WP; Zhu Q; Yang X; Liu S; Cerveira E; Ryan M; Mil-Homens A; Bellfy L; Ye K; Lee C; Zhang C
    Genomics Proteomics Bioinformatics; 2022 Dec; 20(6):1197-1206. PubMed ID: 35085778
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Whole-genome sequencing of phenotypically distinct inflammatory breast cancers reveals similar genomic alterations to non-inflammatory breast cancers.
    Li X; Kumar S; Harmanci A; Li S; Kitchen RR; Zhang Y; Wali VB; Reddy SM; Woodward WA; Reuben JM; Rozowsky J; Hatzis C; Ueno NT; Krishnamurthy S; Pusztai L; Gerstein M
    Genome Med; 2021 Apr; 13(1):70. PubMed ID: 33902690
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
    Stranneheim H; Lagerstedt-Robinson K; Magnusson M; Kvarnung M; Nilsson D; Lesko N; Engvall M; Anderlid BM; Arnell H; Johansson CB; Barbaro M; Björck E; Bruhn H; Eisfeldt J; Freyer C; Grigelioniene G; Gustavsson P; Hammarsjö A; Hellström-Pigg M; Iwarsson E; Jemt A; Laaksonen M; Enoksson SL; Malmgren H; Naess K; Nordenskjöld M; Oscarson M; Pettersson M; Rasi C; Rosenbaum A; Sahlin E; Sardh E; Stödberg T; Tesi B; Tham E; Thonberg H; Töhönen V; von Döbeln U; Vassiliou D; Vonlanthen S; Wikström AC; Wincent J; Winqvist O; Wredenberg A; Ygberg S; Zetterström RH; Marits P; Soller MJ; Nordgren A; Wirta V; Lindstrand A; Wedell A
    Genome Med; 2021 Mar; 13(1):40. PubMed ID: 33726816
    [TBL] [Abstract][Full Text] [Related]  

  • 11. iCopyDAV: Integrated platform for copy number variations-Detection, annotation and visualization.
    Dharanipragada P; Vogeti S; Parekh N
    PLoS One; 2018; 13(4):e0195334. PubMed ID: 29621297
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Evaluation of the performance of copy number variant prediction tools for the detection of deletions from whole genome sequencing data.
    Whitford W; Lehnert K; Snell RG; Jacobsen JC
    J Biomed Inform; 2019 Jun; 94():103174. PubMed ID: 30965134
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Hierarchical discovery of large-scale and focal copy number alterations in low-coverage cancer genomes.
    Khalil AIS; Khyriem C; Chattopadhyay A; Sanyal A
    BMC Bioinformatics; 2020 Apr; 21(1):147. PubMed ID: 32299346
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A clinically validated whole genome pipeline for structural variant detection and analysis.
    Neerman N; Faust G; Meeks N; Modai S; Kalfon L; Falik-Zaccai T; Kaplun A
    BMC Genomics; 2019 Jul; 20(Suppl 8):545. PubMed ID: 31307387
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Investigation of copy number variation in subjects with major depression based on whole-genome sequencing data.
    Yu C; Baune BT; Wong ML; Licinio J
    J Affect Disord; 2017 Oct; 220():38-42. PubMed ID: 28578134
    [TBL] [Abstract][Full Text] [Related]  

  • 16. SVExpress: identifying gene features altered recurrently in expression with nearby structural variant breakpoints.
    Zhang Y; Chen F; Creighton CJ
    BMC Bioinformatics; 2021 Mar; 22(1):135. PubMed ID: 33743584
    [TBL] [Abstract][Full Text] [Related]  

  • 17. XCAVATOR: accurate detection and genotyping of copy number variants from second and third generation whole-genome sequencing experiments.
    Magi A; Pippucci T; Sidore C
    BMC Genomics; 2017 Sep; 18(1):747. PubMed ID: 28934930
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Copy-Number Variants Detection by Low-Pass Whole-Genome Sequencing.
    Dong Z; Xie W; Chen H; Xu J; Wang H; Li Y; Wang J; Chen F; Choy KW; Jiang H
    Curr Protoc Hum Genet; 2017 Jul; 94():8.17.1-8.17.16. PubMed ID: 28696555
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Analytical Validation of Clinical Whole-Genome and Transcriptome Sequencing of Patient-Derived Tumors for Reporting Targetable Variants in Cancer.
    Wrzeszczynski KO; Felice V; Abhyankar A; Kozon L; Geiger H; Manaa D; London F; Robinson D; Fang X; Lin D; Lamendola-Essel MF; Khaira D; Dikoglu E; Emde AK; Robine N; Shah M; Arora K; Basturk O; Bhanot U; Kentsis A; Mansukhani MM; Bhagat G; Jobanputra V
    J Mol Diagn; 2018 Nov; 20(6):822-835. PubMed ID: 30138725
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Towards a comprehensive structural variation map of an individual human genome.
    Pang AW; MacDonald JR; Pinto D; Wei J; Rafiq MA; Conrad DF; Park H; Hurles ME; Lee C; Venter JC; Kirkness EF; Levy S; Feuk L; Scherer SW
    Genome Biol; 2010; 11(5):R52. PubMed ID: 20482838
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.