BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

309 related articles for article (PubMed ID: 30526634)

  • 21. Human Structural Variation: Mechanisms of Chromosome Rearrangements.
    Weckselblatt B; Rudd MK
    Trends Genet; 2015 Oct; 31(10):587-599. PubMed ID: 26209074
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Targeted long-read sequencing allows for rapid identification of pathogenic disease-causing variants in retinoblastoma.
    Nakamichi K; Stacey A; Mustafi D
    Ophthalmic Genet; 2022 Dec; 43(6):762-770. PubMed ID: 36325802
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Whole Genome Low-Coverage Sequencing Concurrently Detecting Copy Number Variations and Their Underlying Complex Chromosomal Rearrangements by Systematic Breakpoint Mapping in Intellectual Deficiency/Developmental Delay Patients.
    Xiao B; Ye X; Wang L; Fan Y; Gu X; Ji X; Sun Y; Yu Y
    Front Genet; 2020; 11():616. PubMed ID: 32733533
    [TBL] [Abstract][Full Text] [Related]  

  • 24. ONT long-read WGS for variant discovery and orthogonal confirmation of short read WGS derived genetic variants in clinical genetic testing.
    Kaplun L; Krautz-Peterson G; Neerman N; Stanley C; Hussey S; Folwick M; McGarry A; Weiss S; Kaplun A
    Front Genet; 2023; 14():1145285. PubMed ID: 37152986
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Location of Balanced Chromosome-Translocation Breakpoints by Long-Read Sequencing on the Oxford Nanopore Platform.
    Hu L; Liang F; Cheng D; Zhang Z; Yu G; Zha J; Wang Y; Xia Q; Yuan D; Tan Y; Wang D; Liang Y; Lin G
    Front Genet; 2019; 10():1313. PubMed ID: 32010185
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Long-read technologies identify a hidden inverted duplication in a family with choroideremia.
    Fadaie Z; Neveling K; Mantere T; Derks R; Haer-Wigman L; den Ouden A; Kwint M; O'Gorman L; Valkenburg D; Hoyng CB; Gilissen C; Vissers LELM; Nelen M; Cremers FPM; Hoischen A; Roosing S
    HGG Adv; 2021 Oct; 2(4):100046. PubMed ID: 35047838
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Comprehensive structural variation genome map of individuals carrying complex chromosomal rearrangements.
    Eisfeldt J; Pettersson M; Vezzi F; Wincent J; Käller M; Gruselius J; Nilsson D; Syk Lundberg E; Carvalho CMB; Lindstrand A
    PLoS Genet; 2019 Feb; 15(2):e1007858. PubMed ID: 30735495
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Improving structural variant clustering to reduce the negative effect of the breakpoint uncertainty problem.
    Geryk J; Zinkova A; Zedníková I; Simková H; Stenzl V; Korabecna M
    BMC Bioinformatics; 2021 Sep; 22(1):464. PubMed ID: 34579642
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Improved structural variant interpretation for hereditary cancer susceptibility using long-read sequencing.
    Thibodeau ML; O'Neill K; Dixon K; Reisle C; Mungall KL; Krzywinski M; Shen Y; Lim HJ; Cheng D; Tse K; Wong T; Chuah E; Fok A; Sun S; Renouf D; Schaeffer DF; Cremin C; Chia S; Young S; Pandoh P; Pleasance S; Pleasance E; Mungall AJ; Moore R; Yip S; Karsan A; Laskin J; Marra MA; Schrader KA; Jones SJM
    Genet Med; 2020 Nov; 22(11):1892-1897. PubMed ID: 32624572
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Long-read genome sequencing resolves a complex 13q structural variant associated with syndromic anophthalmia.
    Boerkoel PK; Dixon K; Fitzsimons C; Shen Y; Huynh S; Schlade-Bartusiak K; Culibrk L; Chan S; Boerkoel CF; Jones SJM; Chin HL
    Am J Med Genet A; 2022 May; 188(5):1589-1594. PubMed ID: 35122461
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Variant discovery and breakpoint region prediction for studying the human 22q11.2 deletion using BAC clone and whole genome sequencing analysis.
    Guo X; Delio M; Haque N; Castellanos R; Hestand MS; Vermeesch JR; Morrow BE; Zheng D
    Hum Mol Genet; 2016 Sep; 25(17):3754-3767. PubMed ID: 27436579
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease-associated genes.
    de Bruijn SE; Rodenburg K; Corominas J; Ben-Yosef T; Reurink J; Kremer H; Whelan L; Plomp AS; Berger W; Farrar GJ; Ferenc Kovács Á; Fajardy I; Hitti-Malin RJ; Weisschuh N; Weener ME; Sharon D; Pennings RJE; Haer-Wigman L; Hoyng CB; Nelen MR; Vissers LELM; van den Born LI; Gilissen C; Cremers FPM; Hoischen A; Neveling K; Roosing S
    Genet Med; 2023 Mar; 25(3):100345. PubMed ID: 36524988
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Long-read genome sequencing identifies causal structural variation in a Mendelian disease.
    Merker JD; Wenger AM; Sneddon T; Grove M; Zappala Z; Fresard L; Waggott D; Utiramerur S; Hou Y; Smith KS; Montgomery SB; Wheeler M; Buchan JG; Lambert CC; Eng KS; Hickey L; Korlach J; Ford J; Ashley EA
    Genet Med; 2018 Jan; 20(1):159-163. PubMed ID: 28640241
    [TBL] [Abstract][Full Text] [Related]  

  • 34.
    Fu Q; Xu M; Chen X; Sheng X; Yuan Z; Liu Y; Li H; Sun Z; Li H; Yang L; Wang K; Zhang F; Li Y; Zhao C; Sui R; Chen R
    J Med Genet; 2017 Mar; 54(3):190-195. PubMed ID: 27627988
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Cas9-based enrichment and single-molecule sequencing for precise characterization of genomic duplications.
    Watson CM; Crinnion LA; Hewitt S; Bates J; Robinson R; Carr IM; Sheridan E; Adlard J; Bonthron DT
    Lab Invest; 2020 Jan; 100(1):135-146. PubMed ID: 31273287
    [TBL] [Abstract][Full Text] [Related]  

  • 36. 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]  

  • 37. 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]  

  • 38. Long-read sequencing to resolve the parent of origin of a de novo pathogenic
    Watson CM; Jackson L; Crinnion LA; Bonthron DT; Sheridan E
    J Med Genet; 2022 Nov; 59(11):1082-1086. PubMed ID: 35414530
    [No Abstract]   [Full Text] [Related]  

  • 39. Identification of novel candidate disease genes from de novo exonic copy number variants.
    Gambin T; Yuan B; Bi W; Liu P; Rosenfeld JA; Coban-Akdemir Z; Pursley AN; Nagamani SCS; Marom R; Golla S; Dengle L; Petrie HG; Matalon R; Emrick L; Proud MB; Treadwell-Deering D; Chao HT; Koillinen H; Brown C; Urraca N; Mostafavi R; Bernes S; Roeder ER; Nugent KM; Bader PI; Bellus G; Cummings M; Northrup H; Ashfaq M; Westman R; Wildin R; Beck AE; Immken L; Elton L; Varghese S; Buchanan E; Faivre L; Lefebvre M; Schaaf CP; Walkiewicz M; Yang Y; Kang SL; Lalani SR; Bacino CA; Beaudet AL; Breman AM; Smith JL; Cheung SW; Lupski JR; Patel A; Shaw CA; Stankiewicz P
    Genome Med; 2017 Sep; 9(1):83. PubMed ID: 28934986
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Clinical sequencing: From raw data to diagnosis with lifetime value.
    Caspar SM; Dubacher N; Kopps AM; Meienberg J; Henggeler C; Matyas G
    Clin Genet; 2018 Mar; 93(3):508-519. PubMed ID: 29206278
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 16.