---
title: "Exome Sequencing"
search_description: "Unlock genetic insights with IGATechnology’s exome sequencing services, offering precise, high-coverage data for biomedical research and clinical applications. Ideal for identifying disease-related variants in targeted genes. Explore our expertise."
published: 2025-02-07 08:19:58.300033+00:00
locale: "it"
---

# 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 quote](https://igatechnology.com/igatech/contacts/#contact-form)

## Technologies

![NovaSeq X Plus](/media/images/Illumina_NovaSeq_XPlus_Left_561x375.width-500.png)

### NovaSeq X Plus

The NovaSeq X Plus is a powerful and scalable ultra-high-throughput sequencing system that supports the broadest range of applications and study sizes. Unrivaled data quality using Illumina's proven SBS chemistry has made the NovaSeq X Plus the instrument of choice for all major genome centers and leading institutions throughout the world. Producing up to 25 billion reads \(7.5 Tbp\) per flowcell, yielding up to 120 human genomes in about 2 days at full capacity.

![Hybridization-based enrichment](/media/images/Hybridization-based_enrichment.width-500.png)

### Hybridization-based enrichment

In order to sequence only an exome, a limited set of genes, or any defined panel of loci, the template DNA must be enriched for fragments derived from them. One way to accomplish such task is to use a set of probes \(ssDNA or RNA\) to capture by hybridization the regions of interest. Probes, usually attached to biotin moieties, are pulled down with biotin-coated metal beads. See [Exome sequencing](https://igatechnology.com/genomics-research-services/plantanimal/exome-sequencing/) - [target genotyping](https://igatechnology.com/genomics-research-services/plantanimal/target-genotyping-by-sequencing/) - [clinical genotyping](https://igatechnology.com/genomics-research-services/clinical-genotyping/).

![AVITI Element Biosciences](/media/images/0.width-500.png)

### AVITI Element Biosciences

The AVITI System by Element Biosciences is a benchtop sequencer designed for high performance, cost efficiency, and flexibility. It features dual independent flow cells for parallel or independent operation, enabling flexibility in throughput from low to full. The system utilizes Avidity Sequencing™ technology, ensuring over 90% of reads exceed Q30 quality, with minimal errors, low duplication rates, and reduced AT/GC bias. It supports easy data conversion to FASTQ files, offers compatibility with numerous assays, and provides cost-effective sequencing. This is our ideal companion for dedicated and fast-turnaround run set-up. For more detailed information, you can visit their website directly at [https://www.elementbiosciences.com/products/aviti](https://www.elementbiosciences.com/products/aviti).

## Available platforms

1. Illumina NovaSeq
2. Element Bioscience AVITI

## Supported Analyses

1. Variants functional annotation
2. Trio analysis \(germline\)
3. Tumor-normal matched pairs \(somatic\)
4. Mitochondrial variants
5. Compound heterozygotes filtering
6. SV and CNV detection
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 post-alignment QC is performed to assess the efficiency and the lack of bias in the enrichment process. Samples can be also processed via validated DRAGEN pipeline \(germline and somatic\).

### KEY DELIVERABLES

- Raw Sequencing Data: raw reads generated by the sequencing platform in FASTQ format.
- Quality Control Reports: detailed HTML reports on read quality and preprocessing steps.
- Aligned Reads: the raw reads aligned to a reference genome in BAM format.
- Variant Calls: identified genetic variants \(such as SNPs and indels\) in VCF \(Variant Call Format\) files.
- Annotated Variants: with information about their potential impact on gene function.
- Summary Reports: comprehensive reports summarizing the findings, including the number of variants detected, their potential significance, and any notable genes or pathways affected.
- Filtered Variant Lists: lists of variants filtered based on specific criteria, such as pathogenicity or relevance to the study's objectives.

Structural variants and CNV analysis can be performed on [request](https://igatechnology.com/igatech/contacts/#contact-form).

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.

## Terms and Conditions

- [Privacy Information.pdf](/documents/12/Privacy_Information_rev00.pdf)
- [Human samples clearance.pdf](/documents/13/__Human-samples_clearance.pdf)
- [Shipping and Packaging Guidelines.pdf](/documents/9/SHIPPING_AND_PACKAGING_GUIDELINES.pdf)
- [rev05 Terms and Conditions.pdf](/documents/137/__M12_01_rev05_Terms_and_Conditions.pdf)