Exome Sequencing
The most widely used targeted resequencing method, applied across a wide range of disciplines. From population genetics to the study of Mendelian and complex diseases such as cancer. This efficient strategy is now employed also in translational and clinical settings to guide appropriate management of therapies.
Request a quoteTechnologies
Available platforms
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1
Illumina NovaSeq
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2
Element Bioscience AVITI
Supported Analyses
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1
Variants functional annotation
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2
Trio analysis (germline)
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3
Tumor-normal matched pairs (somatic)
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4
Mitochondrial variants
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5
Compound heterozygotes filtering
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6
SV and CNV detection
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7
Tumor Mutational Burden
EXOME-seq of other species
Exome capture design and resequencing of other species is available. Pre-designed panels and custom designs.
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.
DATA ANALYSIS
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. Samples can be also processed via validated DRAGEN pipeline (germline and somatic).
Variant summary report delivered in an Excel-compatible format includes functional annotation such as:
- 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.