A remark on copy number variation detection methods

Statistical methods for DNA copy-number detection

BIRC5 Genomic Copy Number Variation in Early-Onset Breast Cancer

Background: Baculoviral inhibitor of apoptosis repeat-containing 5 (BIRC5) gene is an inhibitor of apoptosis that expresses in human embryonic tissues but it is absent in most healthy adult tissues. The copy number of BIRC5 has been indicated to be highly increased in tumor tissues; however, its association with the age of onset in breast cancer is not well understood. Methods: Forty tumor tiss...

A remark on the means of the number of divisors

‎We obtain the asymptotic expansion of the sequence with general term $frac{A_n}{G_n}$‎, ‎where $A_n$ and $G_n$ are the arithmetic and geometric means of the numbers $d(1),d(2),dots,d(n)$‎, ‎with $d(n)$ denoting the number of positive divisors of $n$‎. ‎Also‎, ‎we obtain some explicit bounds concerning $G_n$ and $frac{A_n}{G_n}$.

Current analysis platforms and methods for detecting copy number variation.

Copy number variation (CNV), generated through duplication or deletion events that affect one or more loci, is widespread in the human genomes and is often associated with functional consequences that may include changes in gene expression levels or fusion of genes. Genome-wide association studies indicate that some disease phenotypes and physiological pathways might be impacted by CNV in a sma...

De novo detection of copy number variation by co-assembly

MOTIVATION Comparing genomes of individual organisms using next-generation sequencing data is, until now, mostly performed using a reference genome. This is challenging when the reference is distant and introduces bias towards the exact sequence present in the reference. Recent improvements in both sequencing read length and efficiency of assembly algorithms have brought direct comparison of in...