Whole-genome and targeted sequencing analysis data service
Whole-Genome Sequencing (WGS) is ushering a new era in genomic healthcare, personalized medicine and that Variant Calling (VC) is an important aspect of genomic studies as accurate discovery of high-resolution genetic variation of model organisms and humans can be used to inform clinical decisions. We analyse your epigenomics data in state-of-the-art pipelines to produce publication-ready results.
Understand disease etiology and phenotypes through genomic variation and mutations.
WHOLE-GENOME, whole-exome and targeted DNA sequencing allows identifying and studying genetic variants or mutations. Our genome variation analysis identifies SNPs, indels, gene copy numbers, and genomic rearrangements from the various types of DNA-sequencing and microarray data.
Annotating the variants with population allele frequencies, pathogenicity predictions and known clinical associations allows us to focus on the variants that matter. Tailored downstream bioinformatics analysis of variants together with phenotypic data enables the discovery of novel associations and biomarkers.
For microbes and non-model organisms, we produce annotated, quality-controlled genome assemblies in order to ensure the best possible starting point for future studies.
Understand the effects of genomic variation and mutations with DNA sequencing data analysis
WE ROUTINELY ANALYZE whole genome, whole exome and targeted re-sequencing data of well-characterized organisms, such as humans, with an aim to mapping and identifying small genetic variation (single nucleotide polymorphisms, and short insertions and deletions (indels)) using established best practice methods. In order to help our clients, interpret their variant data, we continuously develop our DNA sequencing data analysis and variant annotation pipeline so as to include more and more information on each identified variant. For example, pathogenicity predictions and minor allele frequencies in databases such as 1000 Genomes and GnomAD provide an excellent way of filtering irrelevant variation from your results.
OUR DNA SEQUENCING DATA ANALYSIS WORKFLOW also adapts to assembling genomes of non-model organisms. We produce genome assemblies based on WGS data that are then computationally post-processed to achieve the best possible quality. The assembled genomes are then annotated using gene prediction, automated homology searches using genome databases, and gene annotation transfer from closely related organisms. Thorough annotation of novel genomes ensures the best possible starting point for transcriptome studies on these organisms.
Read more about typical DNA sequencing data analyses: