170 related articles for article (PubMed ID: 38541033)
1. Integrating Optical Genome Mapping and Whole Genome Sequencing in Somatic Structural Variant Detection.
Budurlean L; Tukaramrao DB; Zhang L; Dovat S; Broach J
J Pers Med; 2024 Mar; 14(3):. PubMed ID: 38541033
[TBL] [Abstract][Full Text] [Related]
2. Structural variant analysis of a cancer reference cell line sample using multiple sequencing technologies.
Talsania K; Shen TW; Chen X; Jaeger E; Li Z; Chen Z; Chen W; Tran B; Kusko R; Wang L; Pang AWC; Yang Z; Choudhari S; Colgan M; Fang LT; Carroll A; Shetty J; Kriga Y; German O; Smirnova T; Liu T; Li J; Kellman B; Hong K; Hastie AR; Natarajan A; Moshrefi A; Granat A; Truong T; Bombardi R; Mankinen V; Meerzaman D; Mason CE; Collins J; Stahlberg E; Xiao C; Wang C; Xiao W; Zhao Y
Genome Biol; 2022 Dec; 23(1):255. PubMed ID: 36514120
[TBL] [Abstract][Full Text] [Related]
3. Optical Genome Mapping Reveals Novel Structural Variants in Lymphoblastic Lymphoma.
Xu H; Gao H; Wang C; Cheng X; Li Z; Lei C; Huang X; Li W; Yue Z; Tian S; Zhao X; Xue T; Xing T; Li J; Wang Y; Duan Y; Wang T; Zhang R
J Pediatr Hematol Oncol; 2024 Jan; 46(1):e71-e82. PubMed ID: 38018972
[TBL] [Abstract][Full Text] [Related]
4. Optical genome mapping unveils hidden structural variants in neurodevelopmental disorders.
Schrauwen I; Rajendran Y; Acharya A; Öhman S; Arvio M; Paetau R; Siren A; Avela K; Granvik J; Leal SM; Määttä T; Kokkonen H; Järvelä I
Sci Rep; 2024 May; 14(1):11239. PubMed ID: 38755281
[TBL] [Abstract][Full Text] [Related]
5. Optical genome mapping enables constitutional chromosomal aberration detection.
Mantere T; Neveling K; Pebrel-Richard C; Benoist M; van der Zande G; Kater-Baats E; Baatout I; van Beek R; Yammine T; Oorsprong M; Hsoumi F; Olde-Weghuis D; Majdali W; Vermeulen S; Pauper M; Lebbar A; Stevens-Kroef M; Sanlaville D; Dupont JM; Smeets D; Hoischen A; Schluth-Bolard C; El Khattabi L
Am J Hum Genet; 2021 Aug; 108(8):1409-1422. PubMed ID: 34237280
[TBL] [Abstract][Full Text] [Related]
6. Optical Genome Mapping Identifies Novel Recurrent Structural Alterations in Childhood
Brandes D; Yasin L; Nebral K; Ebler J; Schinnerl D; Picard D; Bergmann AK; Alam J; Köhrer S; Haas OA; Attarbaschi A; Marschall T; Stanulla M; Borkhardt A; Brozou T; Fischer U; Wagener R
Hemasphere; 2023 Aug; 7(8):e925. PubMed ID: 37469802
[TBL] [Abstract][Full Text] [Related]
7. Next-generation cytogenetics: Comprehensive assessment of 52 hematological malignancy genomes by optical genome mapping.
Neveling K; Mantere T; Vermeulen S; Oorsprong M; van Beek R; Kater-Baats E; Pauper M; van der Zande G; Smeets D; Weghuis DO; Stevens-Kroef MJPL; Hoischen A
Am J Hum Genet; 2021 Aug; 108(8):1423-1435. PubMed ID: 34237281
[TBL] [Abstract][Full Text] [Related]
8. Comparison of Optical Genome Mapping With Conventional Diagnostic Methods for Structural Variant Detection in Hematologic Malignancies.
Shim Y; Koo YK; Shin S; Lee ST; Lee KA; Choi JR
Ann Lab Med; 2024 Jul; 44(4):324-334. PubMed ID: 38433573
[TBL] [Abstract][Full Text] [Related]
9. Whole-genome sequencing with long reads reveals complex structure and origin of structural variation in human genetic variations and somatic mutations in cancer.
Fujimoto A; Wong JH; Yoshii Y; Akiyama S; Tanaka A; Yagi H; Shigemizu D; Nakagawa H; Mizokami M; Shimada M
Genome Med; 2021 Apr; 13(1):65. PubMed ID: 33910608
[TBL] [Abstract][Full Text] [Related]
10. Optical Genome Mapping for Chromosomal Aberrations Detection-False-Negative Results and Contributing Factors.
Xu Y; Zhang Q; Wang Y; Zhou R; Ji X; Meng L; Luo C; Liu A; Jiao J; Chen H; Zeng H; Hu P; Xu Z
Diagnostics (Basel); 2024 Jan; 14(2):. PubMed ID: 38248042
[TBL] [Abstract][Full Text] [Related]
11. Identifying structural variants using linked-read sequencing data.
Elyanow R; Wu HT; Raphael BJ
Bioinformatics; 2018 Jan; 34(2):353-360. PubMed ID: 29112732
[TBL] [Abstract][Full Text] [Related]
12. Combined use of Oxford Nanopore and Illumina sequencing yields insights into soybean structural variation biology.
Lemay MA; Sibbesen JA; Torkamaneh D; Hamel J; Levesque RC; Belzile F
BMC Biol; 2022 Feb; 20(1):53. PubMed ID: 35197050
[TBL] [Abstract][Full Text] [Related]
13. Comparative Benchmarking of Optical Genome Mapping and Chromosomal Microarray Reveals High Technological Concordance in CNV Identification and Additional Structural Variant Refinement.
Barseghyan H; Pang AWC; Clifford B; Serrano MA; Chaubey A; Hastie AR
Genes (Basel); 2023 Sep; 14(10):. PubMed ID: 37895217
[TBL] [Abstract][Full Text] [Related]
14. Use of Optical Genome Mapping to Detect Structural Variants in Neuroblastoma.
Barford RG; Whittle E; Weir L; Fong FC; Goodman A; Hartley HE; Allinson LM; Tweddle DA
Cancers (Basel); 2023 Oct; 15(21):. PubMed ID: 37958407
[TBL] [Abstract][Full Text] [Related]
15. nanotatoR: a tool for enhanced annotation of genomic structural variants.
Bhattacharya S; Barseghyan H; Délot EC; Vilain E
BMC Genomics; 2021 Jan; 22(1):10. PubMed ID: 33407088
[TBL] [Abstract][Full Text] [Related]
16. Next-generation mapping: a novel approach for detection of pathogenic structural variants with a potential utility in clinical diagnosis.
Barseghyan H; Tang W; Wang RT; Almalvez M; Segura E; Bramble MS; Lipson A; Douine ED; Lee H; Délot EC; Nelson SF; Vilain E
Genome Med; 2017 Oct; 9(1):90. PubMed ID: 29070057
[TBL] [Abstract][Full Text] [Related]
17. Expectations and blind spots for structural variation detection from long-read assemblies and short-read genome sequencing technologies.
Zhao X; Collins RL; Lee WP; Weber AM; Jun Y; Zhu Q; Weisburd B; Huang Y; Audano PA; Wang H; Walker M; Lowther C; Fu J; ; Gerstein MB; Devine SE; Marschall T; Korbel JO; Eichler EE; Chaisson MJP; Lee C; Mills RE; Brand H; Talkowski ME
Am J Hum Genet; 2021 May; 108(5):919-928. PubMed ID: 33789087
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Improvement of large copy number variant detection by whole genome nanopore sequencing.
Cuenca-Guardiola J; de la Morena-Barrio B; García JL; Sanchis-Juan A; Corral J; Fernández-Breis JT
J Adv Res; 2023 Aug; 50():145-158. PubMed ID: 36323370
[TBL] [Abstract][Full Text] [Related]
20. Optical Genome Mapping in Routine Human Genetic Diagnostics-Its Advantages and Limitations.
Dremsek P; Schwarz T; Weil B; Malashka A; Laccone F; Neesen J
Genes (Basel); 2021 Dec; 12(12):. PubMed ID: 34946907
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]