Whole-genome CNV analysis: advances in computational approaches
نویسندگان
چکیده
Accumulating evidence indicates that DNA copy number variation (CNV) is likely to make a significant contribution to human diversity and also play an important role in disease susceptibility. Recent advances in genome sequencing technologies have enabled the characterization of a variety of genomic features, including CNVs. This has led to the development of several bioinformatics approaches to detect CNVs from next-generation sequencing data. Here, we review recent advances in CNV detection from whole genome sequencing. We discuss the informatics approaches and current computational tools that have been developed as well as their strengths and limitations. This review will assist researchers and analysts in choosing the most suitable tools for CNV analysis as well as provide suggestions for new directions in future development.
منابع مشابه
I-45: FISH and Array CGH for PGD of Cancer
We developed several FISH approaches to enable preimplantation genetic diagnosis of cancer predisposition syndromes. An overview of the applications and the results of those PGDs will be provided. In addition we developed several novel tools to genome wide screen for CNVs and SNPs in single cells. Those technologies are now being applied for polar body, blastomere and blastocyst screening for c...
متن کاملطراحی واکسن مبتنی بر کامپیوتر: گزارش کوتاه
Background: Although the conventional vaccines have been instrumented in the incidence of many infectious diseases, the advances in genetic engineering and bioinformatics have provided the opportunity for developing improved and new vaccines.Methods: Reverse vaccinology was pioneered by a group of researchers investigating development of a vaccine against serogroup B Neisseria meningitidis. Rev...
متن کاملRefCNV: Identification of Gene-Based Copy Number Variants Using Whole Exome Sequencing
With rapid advances in DNA sequencing technologies, whole exome sequencing (WES) has become a popular approach for detecting somatic mutations in oncology studies. The initial intent of WES was to characterize single nucleotide variants, but it was observed that the number of sequencing reads that mapped to a genomic region correlated with the DNA copy number variants (CNVs). We propose a metho...
متن کاملvariants in the sheep genome detected using multiple approaches 1 2
43 Background. Copy number variants (CNVs) are a type of polymorphism found to underlie phenotypic 44 variation, both in humans and livestock. Most surveys of CNV in livestock have been conducted in 45 the cattle genome, and often utilise only a single approach for the detection of copy number 46 differences. Here we performed a study of CNV in sheep, using multiple methods to identify and 47 c...
متن کاملLightning-fast genome variant detection with GROM
Current human whole genome sequencing projects produce massive amounts of data, often creating significant computational challenges. Different approaches have been developed for each type of genome variant and method of its detection, necessitating users to run multiple algorithms to find variants. We present Genome Rearrangement OmniMapper (GROM), a novel comprehensive variant detection algori...
متن کامل