IGATech has been a reliable, professional and helpful service provider since the start of our collaboration. In addition, their staff has always been friendly and willing to exchange knowledge and experiences.
FLEXIBLE SOLUTIONS - EXPAND THE REGION OF INTEREST
In addition to exons and splice junctions, hybridization-based capture system has a capability to expand targeted content to include extra targets important for your research.
GET MITOCHONDRIAL DNA SEQUENCE FROM OFF-TARGET EXOME READS
Variations in mtDNA sequence can be reliably obtained when using any exome sequence capture kit. This possibility offers the prospect of using exome sequencing as a comprehensive single diagnostic test to detect pathogenic point mutations both in coding nuclear genes and in mitochondrial DNA. A minimum per-mtDNA-base coverage threshold of 20X ensures that the vast majority of mtDNA SNVs are detected.
LINKED-READS FOR HAPLOTYPE PHASING
Exome capture design and resequencing of other species is available. Pre-designed panels and custom designs.
A validated pipeline fully automates the process of variant detection from reads alignment to identification and annotation of SNPs and short indels to reveal common and rare variants.
A post-alignment QC is performed to asses the efficiency and the lack of bias in the enrichment process.
Variant summary report delivered in an Excel-compatible format includes functional annotation such as:
The exome and targeted sequencing service provided by IGATech are of high quality. They also provide a substantial and versatile bioinformatics support that is very helpful for prioritizing exome sequence variants.
- clinical significance (ClinVar)
- phenotype ontology data (HPO)
- OMIM identifier
- scores of predicted impacts (SIFT, PolyPhen, LRT, MutuationTaster, PhyloP and GERP++, etc.)
- dbSNP identifiers
- allele frequencies (1000 Genomes Project, NHLBI-ESP 6500 and ExAC)
Structural variants and CNV analysis can be performed on request.
IGATech provides full support on study design to ensure correct sequencing and bioinformatics strategies are used to meet your project goals. Our experts will consult with you about your specific requirements being your reference contact for the length of your project.