نتائج البحث

SVhound: detection of regions that harbor yet undetected structural variation.

• Authors : Paulin LF; Center for Integrative Bioinformatics Vienna, Max Perutz Labs, University of Vienna, Medical University of Vienna, Vienna, Austria. .; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA. .

Subjects: Genomic Structural Variation* ; Polymorphism, Genetic* ; Software*

• Source: BMC bioinformatics [BMC Bioinformatics] 2023 Jan 20; Vol. 24 (1), pp. 23. Date of Electronic Publication: 2023 Jan 20.Publisher: BioMed Central Country of Publication: England NLM ID: 100965194 Publication Model: Electronic Cited Medium:

تفاصيل العنوان

SVachra: a tool to identify genomic structural variation in mate pair sequencing data containing inward and outward facing reads.

• Authors : Hampton, Oliver A.^1,2 ; English, Adam C.¹; Mark Wang^1,2

• Source: BMC Genomics. 10/3/2017, Vol. 18, p29-34. 6p. 1 Diagram, 2 Graphs.

تفاصيل العنوان

Improving structural variant clustering to reduce the negative effect of the breakpoint uncertainty problem.

• Authors : Geryk J; Department of Biology and Medical Genetics, Second Faculty of Medicine, Charles University and University Hospital Motol, V Úvalu 84, 15006, Prague, Czech Republic. .; Department of Biology and Medical Genetics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Albertov 4, 128 00, Prague, Czech Republic. .

Subjects: Genome, Human* ; Genomic Structural Variation*; Cluster Analysis

• Source: BMC bioinformatics [BMC Bioinformatics] 2021 Sep 27; Vol. 22 (1), pp. 464. Date of Electronic Publication: 2021 Sep 27.Publisher: BioMed Central Country of Publication: England NLM ID: 100965194 Publication Model: Electronic Cited Medium:

تفاصيل العنوان

Mechanism of ERBB2 gene overexpression by the formation of super-enhancer with genomic structural abnormalities in lung adenocarcinoma without clinically actionable genetic alterations.

• Authors : Kaneko S; Division of Medical AI Research and Development, National Cancer Center Research Institute, 5-1-1 Tsukiji, Chuo-Ku, Tokyo, 104-0045, Japan. .; Cancer Translational Research Team, RIKEN Center for Advanced Intelligence Project, Tokyo, 103-0027, Japan. .

Subjects: Receptor, ErbB-2*/Receptor, ErbB-2*/Receptor, ErbB-2*/genetics ; Receptor, ErbB-2*/Receptor, ErbB-2*/Receptor, ErbB-2*/metabolism ; Adenocarcinoma of Lung*/Adenocarcinoma of Lung*/Adenocarcinoma of Lung*/genetics

• Source: Molecular cancer [Mol Cancer] 2024 Jun 11; Vol. 23 (1), pp. 126. Date of Electronic Publication: 2024 Jun 11.Publisher: BioMed Central Country of Publication: England NLM ID: 101147698 Publication Model: Electronic Cited Medium:

تفاصيل العنوان

Adaptive genomic structural variation in the grape powdery mildew pathogen, Erysiphe necator.

• Authors : Jones, Laura¹ ; Riaz, Summaira¹ ; Morales-Cruz, Abraham¹

• Source: BMC Genomics. 2014, Vol. 15 Issue 1, p657-692. 36p. 1 Color Photograph, 1 Diagram, 2 Charts, 4 Graphs.

تفاصيل العنوان

Optimizing Nanopore sequencing-based detection of structural variants enables individualized circulating tumor DNA-based disease monitoring in cancer patients.

• Authors : Valle-Inclan JE; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht and Utrecht University, Utrecht, The Netherlands.; Oncode Institute, Utrecht, The Netherlands.

Subjects: Biomarkers, Tumor* ; Circulating Tumor DNA* ; Genomic Structural Variation*

• Source: Genome medicine [Genome Med] 2021 May 18; Vol. 13 (1), pp. 86. Date of Electronic Publication: 2021 May 18.Publisher: BioMed Central Country of Publication: England NLM ID: 101475844 Publication Model: Electronic Cited Medium:

تفاصيل العنوان

Whole-genome sequencing with long reads reveals complex structure and origin of structural variation in human genetic variations and somatic mutations in cancer.

• Authors : Fujimoto A; Department of Human Genetics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan. .; Department of Drug Discovery Medicine, Kyoto University Graduate School of Medicine, Kyoto, Japan. .

Subjects: Genome, Human* ; Genomic Structural Variation* ; Whole Genome Sequencing*

• Source: Genome medicine [Genome Med] 2021 Apr 29; Vol. 13 (1), pp. 65. Date of Electronic Publication: 2021 Apr 29.Publisher: BioMed Central Country of Publication: England NLM ID: 101475844 Publication Model: Electronic Cited Medium:

تفاصيل العنوان

SVExpress: identifying gene features altered recurrently in expression with nearby structural variant breakpoints.

• Authors : Zhang Y; Dan L. Duncan Comprehensive Cancer Center Division of Biostatistics, Baylor College of Medicine, Houston, TX, 77030, USA.; Chen F

Subjects: DNA Copy Number Variations* ; Genomic Structural Variation* ; Whole Genome Sequencing*

• Source: BMC bioinformatics [BMC Bioinformatics] 2021 Mar 21; Vol. 22 (1), pp. 135. Date of Electronic Publication: 2021 Mar 21.Publisher: BioMed Central Country of Publication: England NLM ID: 100965194 Publication Model: Electronic Cited Medium:

تفاصيل العنوان

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:

تفاصيل العنوان

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:

تفاصيل العنوان