Noise cancellation using total variation for copy number variation detection
نویسندگان
چکیده
منابع مشابه
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...
متن کاملCNVeM: Copy Number Variation Detection Using Uncertainty of Read Mapping
Copy number variations (CNVs) are widely known to be an important mediator for diseases and traits. The development of high-throughput sequencing (HTS) technologies has provided great opportunities to identify CNV regions in mammalian genomes. In a typical experiment, millions of short reads obtained from a genome of interest are mapped to a reference genome. The mapping information can be used...
متن کاملcopy number variation detection in sheep genome by using ovine beadchip 50k
introduction recently, genomic research in livestock is focused on genomic variation and its effect on phenotypic performance in economic traits. copy number variation (cnv) is one of these variations in genome including insertion, deletion and duplication of 1 kb to 1 mb segment with more than 90% similarity. cnvs can change gene structure and dosage, can regulate gene expression and function ...
متن کاملModified screening and ranking algorithm for copy number variation detection
MOTIVATION Copy number variation (CNV) is a type of structural variation, usually defined as genomic segments that are 1 kb or larger, which present variable copy numbers when compared with a reference genome. The screening and ranking algorithm (SaRa) was recently proposed as an efficient approach for multiple change-points detection, which can be applied to CNV detection. However, some practi...
متن کاملExCNVSS: A Noise-Robust Method for Copy Number Variation Detection in Whole Exome Sequencing Data
Copy number variations (CNVs) are structural variants associated with human diseases. Recent studies verified that disease-related genes are based on the extraction of rare de novo and transmitted CNVs from exome sequencing data. The need for more efficient and accurate methods has increased, which still remains a challenging problem due to coverage biases, as well as the sparse, small-sized, a...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: BMC Bioinformatics
سال: 2018
ISSN: 1471-2105
DOI: 10.1186/s12859-018-2332-x