dnaSEQ BioSignature Discovery Services

Finding genomic variants and understanding their downstream effects

Seralogix provides specialized services in the analysis of next generation DNA sequencing for the detection of SNPs and structural variants. Our custom developed tools aligns reads with a variety of alignment approaches, leading to high sensitivity and specificity.

We specialize in dealing with a wide range of animal or plant genomes and the unique requirements for implementing accurate annotation files for alignment and gene mapping. For each mapping we report reads that map uniquely to the genome but also reads that are ambiguous. To support the detection of structural variants, spliced-alignments are used allowing to map individual reads to different chromosomes.

After the mapping, different genomic variants are detected. These are: homozygous and heterozygous SNPs and InDels, structural variants and copy number variations (CNVs). SNPs are categorized into: initiating, missense, nonsense, read-through, (non)-synonymous or changes in TF binding sites. CNV regions can be detected in our copy variant visualizer, where multiple conditions can be compared. The structural variant detection is based on paired-end sequencing.

SNPs, InDels, CNVs and structural variants can all affect gene regulatory pathways and signaling networks. Thus, to understand the biological implications we can apply our downstream systems biology computational pipeline for gene regulatory networks, gene enrichments, pathways and networks.