scholarly journals Precise breakpoint detection in a patient with 9p– syndrome

2020 ◽  
Vol 6 (3) ◽  
pp. a005348
Author(s):  
Jeffrey Ng ◽  
Eleanor Sams ◽  
Dustin Baldridge ◽  
Milinn Kremitzki ◽  
Daniel J. Wegner ◽  
...  
Keyword(s):  
Breakpoint Detection

Breakpoints and breakpoint detection in source-level emulation

1998 ◽  
Vol 3 (2) ◽  
pp. 209-230 ◽  
Author(s):  
Gernot H. Koch ◽  
W. Rosenstiel ◽  
U. Kebschull
Keyword(s):  
Breakpoint Detection ◽  
Source Level

A Comparison of Whole Genome Mate Pair Sequencing (MPseq) with Karyotype and FISH for Breakpoint Detection in Hematologic Cancers

2016 ◽  
Vol 209 (6) ◽  
pp. 290
Author(s):  
Sarah H. Johnson ◽  
Stephanie A. Smoley ◽  
Hutton M. Kearney ◽  
William R. Sukov ◽  
Robert B. Jenkins ◽  
...  
Keyword(s):  
Whole Genome ◽  
Mate Pair ◽  
Breakpoint Detection

scholarly journals Research on breakpoint area detection of computer communication network transmission data based on cloud framework

2021 ◽  
Vol 2083 (4) ◽  
pp. 042045
Author(s):  
Shichuang Zheng ◽  
Jiajun Li ◽  
Shuai Chen ◽  
Yujia Liang ◽  
Jiangtao Lin
Keyword(s):  
Communication Network ◽  
Detection Method ◽  
Distribution Characteristics ◽  
Time Saving ◽  
Computer Communication ◽  
Transmission Data ◽  
Cloud Framework ◽  
Breakpoint Detection ◽  
Network Transmission ◽  
Computer Communication Network

Abstract Traditional detection method of data breakpoint in computer communication network has some disadvantages, such as time consuming, etc. Firstly, the data of computer transmission breakpoints are stored based on cloud framework, and the density distribution characteristics of the region are extracted according to the breakpoint data. Then the optimal data breakpoint detection path is selected. Finally, the similarity of each data breakpoint is detected by the computer, so that the detection of data breakpoints is realized by computer. After experiments, the data breakpoint detection is realized, the results show that the designed method can detect data breakpoints accurately, which is time-saving and has a certain significance of popularization.

scholarly journals Enhanced detection of the t(14;18) translocation in malignant lymphoma using pulsed-field gel electrophoresis

Blood ◽  
1991 ◽  
Vol 78 (6) ◽  
pp. 1552-1560 ◽  
Author(s):  
AD Zelenetz ◽  
G Chu ◽  
N Galili ◽  
CD Bangs ◽  
SJ Horning ◽  
...  
Keyword(s):  
Malignant Lymphoma ◽  
Gel Electrophoresis ◽  
Cytogenetic Analysis ◽  
Chromosomal Translocation ◽  
Pulsed Field Gel Electrophoresis ◽  
Separate Analysis ◽  
Chromosome 18 ◽  
Pulsed Field ◽  
Breakpoint Detection ◽  
Tissue Specimens

Abstract The t(14;18) chromosomal translocation that results in the juxtaposition of the bcl-2 proto-oncogene with the heavy chain JH locus is a common cytogenetic abnormality in human lymphoma. In particular, it is seen in about 85% of follicular lymphoma (FL) and up to one-third of diffuse lymphomas (DL). The chromosome 18 breakpoints have been shown to cluster into two regions. The major breakpoint region (mbr) within the 3′ untranslated region of the bcl-2 proto-oncogene accounts for approximately 60% of the cases and the minor cluster region (mcr) 30 kb 3′ of bcl-2 accounts for approximately 25% of the breakpoints. Because of variability in the position of the breakpoint, detection of the t(14;18) by Southern blot analysis provides an important clonal marker for the tumor. However, conventional electrophoresis (CE) fails to detect the translocation in 15% to 25% of cases. We have applied pulsed-field gel electrophoresis (PFGE) to the detection of the t(14;18) in a series of lymphoma prospectively analyzed by CE, polymerase chain reaction (PCR), and cytogenetic analysis. PFGE readily detected t(14;18) rearrangements as indicated by comigration of bands detected with probes for the mbr region (chromosome 18) and the JH locus (chromosome 14). In a series of 40 patients with FL, this method proved to be the most comprehensive for detection of the translocation compared with standard methods; in fact, in one case only PFGE was able to detect the chromosomal rearrangement. Ten percent of the FL cases were negative by all methods tested. In a separate analysis of matched tissue specimens from cases of tumor progression of FL to diffuse lymphoma, PFGE detected a common t(14;18) rearrangement confirming a clonal origin in seven of seven cases, whereas CE detected a rearrangement in only three of seven cases. Overall, PFGE was able to detect a translocation in 8 of 12 cases that were negative by CE and four of eight negative by cytogenetic analysis. In conclusion, PFGE analysis is more comprehensive than CE, PCR, and cytogenetic analysis for the detection of the t(14;18) breakpoint in tissue biopsies of malignant lymphoma.

scholarly journals A breakpoint detection in the mean model with heterogeneous variance on fixed time intervals

2019 ◽  
Vol 30 (1) ◽  
pp. 195-207 ◽  
Author(s):  
Olivier Bock ◽  
Xavier Collilieux ◽  
François Guillamon ◽  
Emilie Lebarbier ◽  
Claire Pascal
Keyword(s):  
Fixed Time ◽  
Time Intervals ◽  
Heterogeneous Variance ◽  
Breakpoint Detection ◽  
The Mean

scholarly journals Detecting Land Degradation in Eastern China Grasslands with Time Series Segmentation and Residual Trend analysis (TSS-RESTREND) and GIMMS NDVI3g Data

2019 ◽  
Vol 11 (9) ◽  
pp. 1014 ◽  
Author(s):  
Caixia Liu ◽  
John Melack ◽  
Ye Tian ◽  
Huabing Huang ◽  
Jinxiong Jiang ◽  
...  
Keyword(s):  
Time Series ◽  
Trend Analysis ◽  
Eastern China ◽  
Vegetation Changes ◽  
Natural Processes ◽  
Grassland Ecosystems ◽  
Time Series Segmentation ◽  
Breakpoint Detection ◽  
Ecosystem Changes ◽  
Gimms Ndvi3g

Grassland ecosystems in China have experienced degradation caused by natural processes and human activities. Time series segmentation and residual trend analysis (TSS-RESTREND) was applied to grasslands in eastern China. TSS-RESTREND is an extended version of the residual trend (RESTREND) methodology. It considers breakpoint detection to identify pixels with abrupt ecosystem changes which violate the assumptions of RESTREND. With TSS-RESTREND, in Xilingol (111°59′–120°00′E and 42°32′–46°41′E) and Hulunbuir (115°30′–122°E and 47°10′–51°23′N) grassland, 5.5% and 3.3% of the area experienced a decrease in greenness between 1984 and 2009, 80.2% and 73.2% had no significant change, 4.9% and 2.6% increased in greenness, and 9.4% and 20.9% were undetermined, respectively. RESTREND may underestimate the greening trend in Xilingol, but both TSS-RESTREND and RESTREND revealed no significant differences in Hulunbuir. The proposed TSS-RESTREND methodology captured both the time and magnitude of vegetation changes.

scholarly journals Analysis of Array-CGH Data Using the R and Bioconductor Software Suite

2009 ◽  
Vol 2009 ◽  
pp. 1-8 ◽  
Author(s):  
Winfried A. Hofmann ◽  
Anja Weigmann ◽  
Marcel Tauscher ◽  
Britta Skawran ◽  
Tim Focken ◽  
...  
Keyword(s):  
Array Cgh ◽  
Molecular Genetic ◽  
Comparative Genomic ◽  
Accurate Identification ◽  
Genome Wide ◽  
Versatile Tool ◽  
Breakpoint Detection ◽  
Dna Copy Number Alterations ◽  
User Friendly

Background. Array-based comparative genomic hybridization (array-CGH) is an emerging high-resolution and high-throughput molecular genetic technique that allows genome-wide screening for chromosome alterations. DNA copy number alterations (CNAs) are a hallmark of somatic mutations in tumor genomes and congenital abnormalities that lead to diseases such as mental retardation. However, accurate identification of amplified or deleted regions requires a sequence of different computational analysis steps of the microarray data.Results. We have developed a user-friendly and versatile tool for the normalization, visualization, breakpoint detection, and comparative analysis of array-CGH data which allows the accurate and sensitive detection of CNAs.Conclusion. The implemented option for the determination of minimal altered regions (MARs) from a series of tumor samples is a step forward in the identification of new tumor suppressor genes or oncogenes.

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