Structural Variations (SVs) and Copy Number Variations (CNVs) are a major
source of genomic variation. However, compared to SNPs, accurate detection,
genotyping and understanding of CNVs is lagging behind due to much greater
analytical challenges related to SV/CNV detection and analysis. In our lab
we analyse SVs/CNVs using high-throughput sequencing and different analytical
approaches. Related tools, databases and publications are listed below.
||personal genome constructor, it can be used to construct a personal
diploid genome sequence by including personal variants into reference genome.
||a tool for CNV discovery and genotyping from depth of read
||a tools that implements an algorithm for optimal alignment of
sequences with SVs.
||a pipeline for annotation, classification and analysis of SVs at
single nucleotide resolution.
||a computational and simulation framework for discovering SVs by
paired-end read mapping.
|Databases and Datasets
||The database contains information about breakpoints of SVs at single
nucleotide level. The information has been gathered from literature.
||The database contains information about SVs and associated breakpoints detected by PEMer.
|Click here for a complete list of SV-related papers published in our group. Individual references to some of these have also been provided above.