aCNViewer: Comprehensive genome-wide visualization of absolute copy number and copy neutral variations
نویسندگان
چکیده
منابع مشابه
aCNViewer: Comprehensive genome-wide visualization of absolute copy number and copy neutral variations
MOTIVATION Copy number variations (CNV) include net gains or losses of part or whole chromosomal regions. They differ from copy neutral loss of heterozygosity (cn-LOH) events which do not induce any net change in the copy number and are often associated with uniparental disomy. These phenomena have long been reported to be associated with diseases and particularly in cancer. Losses/gains of gen...
متن کاملGenome-wide Mapping of Copy Number Variations Using SNP Arrays.
The availability of high-density single nucleotide polymorphism (SNP) microarrays in recent years has proven to be a great step forward in the context of global analysis of genomic abnormalities in disease. SNP arrays offer great robustness, high resolution and the possibility to detect a variety of different genomic copy number variations such as submicroscopic deletions, amplifications, loss ...
متن کاملGenome-Wide Identification of Copy Number Variations in Chinese Holstein
Recent studies of mammalian genomes have uncovered the vast extent of copy number variations (CNVs) that contribute to phenotypic diversity. Compared to SNP, a CNV can cover a wider chromosome region, which may potentially incur substantial sequence changes and induce more significant effects on phenotypes. CNV has been becoming an alternative promising genetic marker in the field of genetic an...
متن کاملO-38: Concurrent Whole-Genome Haplotyping and Copy-Number Profiling of Single Cells
Background Methods for haplotyping and DNA copynumber typing of single cells are paramount for studying genomic heterogeneity and enabling genetic diagnosis. Before analyzing the DNA of a single cell by microarray or next-generation sequencing, a whole-genome amplification (WGA) process is required, but it substantially distorts the frequency and composition of the cell’s alleles. As a conseque...
متن کاملI-44: Concurrent Whole-Genome Haplotyping and Copy-Number Profiling of Single Cells
Background Methods for haplotyping and DNA copynumber typing of single cells are paramount for studying genomic heterogeneity and enabling genetic diagnosis. Before analyzing the DNA of a single cell by microarray or next-generation sequencing, a whole-genome amplification (WGA) process is required, but it substantially distorts the frequency and composition of the cell’s alleles. As a conseque...
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: PLOS ONE
سال: 2017
ISSN: 1932-6203
DOI: 10.1371/journal.pone.0189334