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.

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Technologies
NovaSeq6000
NextSeq500
Hybridization-based enrichment

Quality and Flexibility

  1. EMQN certified pipeline
  2. Benchmarked with GIAB
  3. Whole and clinical exome
  4. Addition of extra targets
  5. Linked-reads exome (10X Genomics)

Supported Analyses

  1. Variants functional annotation
  2. Trio analysis
  3. Tumor-normal matched pairs
  4. Mitochondrial variants
  5. Variant phasing (10X Genomics)
  6. Compound heterozygotes filtering
  7. SV and CNV detection 

 

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.

Ales Maver, MD
Centre for Mendelian Genomics at the Institute of Medical Genetics, Ljubljana - Slovenia 

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

You can opt for library preparation with 10XGenomics Chromium System, which uses the power of linked-reads to fully resolve genic phasing, structural variation, and detect variants in previously inaccessible and complex regions of the exome.

 

 

EXOME-seq of other species

Exome capture design and resequencing of other species is available. Pre-designed panels and custom designs.

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.

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.

Dr. Carlo Nobile
Senior Researcher at Neuroscience Institute of the National Research Council, Padova - Italy
 

  • 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.

 

 

 

 

Documents & Reports

Human samples clearance

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Privacy Information

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Samples Spreadsheet v5

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Terms and Conditions

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2017 EMQN Performance Certificates.pdf

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Exome seq Data delivery specifications.pdf

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Exome Seq Sample preparation guidelines v2.pdf

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