Effective normalization for copy number variation in Hi-C data
نویسندگان
چکیده
منابع مشابه
Genome analysis A computational strategy to adjust for copy number in tumor Hi-C data
Motivation: The Hi-C technology was designed to decode the three-dimensional conformation of the genome. Despite progress towards more and more accurate contact maps, several systematic biases have been demonstrated to affect the resulting data matrix. Here we report a new source of bias that can arise in tumor Hi-C data, which is related to the copy number of genomic DNA. To address this bias,...
متن کاملA computational strategy to adjust for copy number in tumor Hi-C data
MOTIVATION The Hi-C technology was designed to decode the three-dimensional conformation of the genome. Despite progress towards more and more accurate contact maps, several systematic biases have been demonstrated to affect the resulting data matrix. Here we report a new source of bias that can arise in tumor Hi-C data, which is related to the copy number of genomic DNA. To address this bias, ...
متن کاملBIRC5 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 کاملIdentification of copy number variations and translocations in cancer cells from Hi-C data
Motivation Eukaryotic chromosomes adapt a complex and highly dynamic three-dimensional (3D) structure, which profoundly affects different cellular functions and outcomes including changes in epigenetic landscape and in gene expression. Making the scenario even more complex, cancer cells harbor chromosomal abnormalities (e.g., copy number variations (CNVs) and translocations) altering their geno...
متن کاملCODEX: a normalization and copy number variation detection method for whole exome sequencing
High-throughput sequencing of DNA coding regions has become a common way of assaying genomic variation in the study of human diseases. Copy number variation (CNV) is an important type of genomic variation, but detecting and characterizing CNV from exome sequencing is challenging due to the high level of biases and artifacts. We propose CODEX, a normalization and CNV calling procedure for whole ...
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ژورنال
عنوان ژورنال: BMC Bioinformatics
سال: 2018
ISSN: 1471-2105
DOI: 10.1186/s12859-018-2256-5