ShinyCNV: a Shiny/R application to view and annotate DNA copy number variations
نویسندگان
چکیده
منابع مشابه
Application of low copy number DNA profiling.
Low copy number (LCN) DNA profiling is a technique sensitive enough to analyze just a few cells. When this kind of analysis is carried out, special considerations are needed to interpret the results. In particular, it is important to consider the implications of allele dropout and the possibility of contamination from a laboratory source. A rationale for interpreting LCN DNA is described.
متن کاملStatistical issues in the analysis of DNA Copy Number Variations
Approaches to assess copy number variation have advanced rapidly and are being incorporated into genetic studies. While the technology exists for CNV genotyping, a further understanding and discussion of how to use the CNV data for association analyses is warranted. We present the options available for processing and analysing CNV data. We break these steps down into choice of genotyping platfo...
متن کاملHuman subtelomeric copy number variations.
Copy number variation is a defining characteristic of human subtelomeres. Human subtelomeric segmental duplication regions ('Subtelomeric Repeats') comprise about 25% of the most distal 500 kb and 80% of the most distal 100 kb in human DNA. Huge allelic disparities seen in subtelomeric DNA sequence content and organization are postulated to have an impact on the dosage of transcripts embedded w...
متن کاملAssessment of mitochondrial DNA copy number in peripheral blood leukocyte of opiate abusers and healthy individuals
Background: Based on the studies, variation in the mitochondrial DNA (mtDNA) copy number in peripheral blood leukocytes is associated with increased susceptibility to diseases including cancer. Opiate abusers are at high risk for diseases. In this study, we measured the mtDNA copy number in peripheral blood leukocytes in a group of opiate abusers compared with those in healthy individuals. Met...
متن کاملThe Screening and Ranking Algorithm to Detect Dna Copy Number Variations.
DNA Copy number variation (CNV) has recently gained considerable interest as a source of genetic variation that likely influences phenotypic differences. Many statistical and computational methods have been proposed and applied to detect CNVs based on data that generated by genome analysis platforms. However, most algorithms are computationally intensive with complexity at least O(n2), where n ...
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ژورنال
عنوان ژورنال: Bioinformatics
سال: 2018
ISSN: 1367-4803,1460-2059
DOI: 10.1093/bioinformatics/bty546