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Academic Journal

nanotatoR: a tool for enhanced annotation of genomic structural variants.

  • Authors : Bhattacharya S; Center for Genetic Medicine Research, Children's Research Institute, Children's National Hospital, Washington, DC, 20010, USA.; Barseghyan H

Subjects: Genome, Human* ; Genomic Structural Variation*; Genomics

  • Source: BMC genomics [BMC Genomics] 2021 Jan 06; Vol. 22 (1), pp. 10. Date of Electronic Publication: 2021 Jan 06.Publisher: BioMed Central Country of Publication: England NLM ID: 100965258 Publication Model: Electronic Cited Medium:

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Academic Journal

Comprehensive evaluation of structural variant genotyping methods based on long-read sequencing data.

  • Authors : Duan X; State Key Laboratory of Genetic Engineering, Human Phenome Institute, Zhangjiang Fudan International Innovation Center, Fudan University, Shanghai, 200438, China.; MOE Key Laboratory of Contemporary Anthropology, Department of Anthropology and Human Genetics, School of Life Sciences, Fudan University, Shanghai, 200433, China.

Subjects: Genomics*/Genomics*/Genomics*/methods ; High-Throughput Nucleotide Sequencing*; Genomic Structural Variation

  • Source: BMC genomics [BMC Genomics] 2022 Apr 23; Vol. 23 (1), pp. 324. Date of Electronic Publication: 2022 Apr 23.Publisher: BioMed Central Country of Publication: England NLM ID: 100965258 Publication Model: Electronic Cited Medium:

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Academic Journal

Oxford Nanopore and Bionano Genomics technologies evaluation for plant structural variation detection.

  • Authors : Canaguier A; Université Paris-Saclay, INRAE, Etude du Polymorphisme des Génomes Végétaux EPGV, 91000, Evry-Courcouronnes, France.; Guilbaud R

Subjects: Nanopores*; Genome ; Genomic Structural Variation

  • Source: BMC genomics [BMC Genomics] 2022 Apr 21; Vol. 23 (1), pp. 317. Date of Electronic Publication: 2022 Apr 21.Publisher: BioMed Central Country of Publication: England NLM ID: 100965258 Publication Model: Electronic Cited Medium:

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Academic Journal

'Nebbiolo' genome assembly allows surveying the occurrence and functional implications of genomic structural variations in grapevines (Vitis vinifera L.).

  • Authors : Maestri S; Department of Biotechnology, University of Verona, Strada Le Grazie 15, 37134, Verona, Italy.; Gambino G

Subjects: Vitis*/Vitis*/Vitis*/genetics; Genomic Structural Variation ; Italy

  • Source: BMC genomics [BMC Genomics] 2022 Feb 24; Vol. 23 (1), pp. 159. Date of Electronic Publication: 2022 Feb 24.Publisher: BioMed Central Country of Publication: England NLM ID: 100965258 Publication Model: Electronic Cited Medium:

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Academic Journal

Structural variation of the malaria-associated human glycophorin A-B-E region.

  • Authors : Louzada S; Wellcome Sanger Institute, Hinxton, Cambridge, UK.; Present address: Laboratory of Cytogenomics and Animal Genomics (CAG), Department of Genetics and Biotechnology, University of Trás-os-Montes and Alto Douro (UTAD), Vila Real, Portugal.

Subjects: Genomic Structural Variation*; Glycophorins/Glycophorins/Glycophorins/*genetics ; Malaria, Falciparum/Malaria, Falciparum/Malaria, Falciparum/*genetics

  • Source: BMC genomics [BMC Genomics] 2020 Jun 29; Vol. 21 (1), pp. 446. Date of Electronic Publication: 2020 Jun 29.Publisher: BioMed Central Country of Publication: England NLM ID: 100965258 Publication Model: Electronic Cited Medium:

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Academic Journal

The effects of common structural variants on 3D chromatin structure.

Subjects: Genomic Structural Variation*; Chromatin/Chromatin/Chromatin/*chemistry ; Chromosomes, Human/Chromosomes, Human/Chromosomes, Human/*genetics

  • Source: BMC genomics [BMC Genomics] 2020 Jan 30; Vol. 21 (1), pp. 95. Date of Electronic Publication: 2020 Jan 30.Publisher: BioMed Central Country of Publication: England NLM ID: 100965258 Publication Model: Electronic Cited Medium:

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Academic Journal

Structural variations in papaya genomes.

  • Authors : Liao Z; College of Life Science, Center for Genomics and Biotechnology, Fujian Provincial Key Laboratory of Haixia Applied Plant Systems Biology, Fujian Agriculture and Forestry University, Fuzhou, 350002, Fujian, China.; Zhang X

Subjects: Carica*/Carica*/Carica*/genetics; Animals ; Genome, Plant

  • Source: BMC genomics [BMC Genomics] 2021 May 10; Vol. 22 (1), pp. 335. Date of Electronic Publication: 2021 May 10.Publisher: BioMed Central Country of Publication: England NLM ID: 100965258 Publication Model: Electronic Cited Medium:

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Academic Journal

Genome-wide segregation of single nucleotide and structural variants into single cancer cells.

  • Authors : Easton J; Department of Computational Biology, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA.; Gonzalez-Pena V

Subjects: Genetic Variation* ; Genomic Structural Variation*; High-Throughput Nucleotide Sequencing/High-Throughput Nucleotide Sequencing/High-Throughput Nucleotide Sequencing/*methods

  • Source: BMC genomics [BMC Genomics] 2017 Nov 25; Vol. 18 (1), pp. 906. Date of Electronic Publication: 2017 Nov 25.Publisher: BioMed Central Country of Publication: England NLM ID: 100965258 Publication Model: Electronic Cited Medium:

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Report

VarI-SIG 2015: methods for personalized medicine - the role of variant interpretation in research and diagnostics.

  • Authors : Bromberg Y; Department of Biochemistry and Microbiology, Rutgers University, Lipman Hall 218, 08901, New Brunswick, NJ, USA. .; Department of Genetics, Rutgers University, Lipman Hall 218, 08901, New Brunswick, NJ, USA. .

Subjects: Genomic Structural Variation* ; Polymorphism, Single Nucleotide* ; Precision Medicine*

  • Source: BMC genomics [BMC Genomics] 2016 Jun 23; Vol. 17 Suppl 2, pp. 425. Date of Electronic Publication: 2016 Jun 23.Publisher: BioMed Central Country of Publication: England NLM ID: 100965258 Publication Model: Electronic Cited Medium:

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Academic Journal

svclassify: a method to establish benchmark structural variant calls.

  • Authors : Parikh H; Genome-Scale Measurements Group, Material Measurement Laboratory, National Institute of Standards and Technology, 100 Bureau Dr, MS8313, Gaithersburg, MD, 20899, USA. .; Dakota Consulting Inc., 1110 Bonifant Street, Suite 310, Silver Spring, MD, 20910, USA. .

Subjects: Genome, Human* ; Genomic Structural Variation* ; Software*

  • Source: BMC genomics [BMC Genomics] 2016 Jan 16; Vol. 17, pp. 64. Date of Electronic Publication: 2016 Jan 16.Publisher: BioMed Central Country of Publication: England NLM ID: 100965258 Publication Model: Electronic Cited Medium:

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  • 1-10 of  26 results for ""Genomic Structural Variation""