--- title: "Whole genome sequencing (Human)" search_description: "Discover IGATech's comprehensive whole genome sequencing services, providing accurate, high-quality genome data for research and industry. With advanced sequencing technology, we support biotech, academia, and pharma in uncovering genetic insights. Learn more." published: 2026-09-24 15:34:52.430914+00:00 locale: "it" --- # Whole genome sequencing \(Human\) [Request a quote](https://igatechnology.com/igatech/contacts/#contact-form) ## Technologies ![Whole Genome Sequencing](/media/images/Whole_genome_sequencing.width-500.png) ### Whole Genome Sequencing The whole genome sequence as the most comprehensive overview of its composition. Identify most of the variability accounted by SNPs, CNVs, PAVs, insertions, deletions, translocations along with its functional impact on the genetic code an organism. Dedicated technologies are applied for *de novo* reconstruction of personal genomes to an affordable price, providing an unbiased method to depict each individual human \(and non-human\) genome. See [*de novo*](https://igatechnology.com/genomics-research-services/?area=plant#denovo) - [whole genome resequencing](https://igatechnology.com/genomics-research-services/whole-genomics-resequencing/). ![Low-pass sequencing](/media/images/low.width-500.png) ### Low-pass sequencing An alternative way to pursue genotyping/classification experiment is carried to a very low coverage per individual. This technique is adopted in several applications such as metagenomics, allele/SNP mining, Pop-Seq, Pool-Seq. Haplotype/organism identification will rely on a ‘horizontal’ coverage rather than a ‘vertical’ coverage. This analysis does not have sufficient information to detect structural variation, but dramatically reduces costs in large genotyping and metagenomics experiments. See [metagenomics](https://igatechnology.com/genomics-research-services/plantanimal/metagenomics/) - [bioinformatics](https://igatechnology.com/bioinformatics-support/) ![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). ![Nanopore Sequencing](/media/images/1.width-500.jpg) ### Nanopore Sequencing Nanopore sequencing is empowering many applications by the ability to analyze DNA, RNA and their modifications with no limitation on sequence length. This is of particular importance when the goal is to resolve hard-to-sequence or repetitive regions that have so far hampered the possibility to decode structural and epigenetic variation. Also, direct RNA sequencing and full-length cDNA sequencing are providing unprecedented insight into the real strucure and abundance of transcripts isoforms. ## Advantages of WGS approach 1. Discover all variants in coding and non-coding regions 2. Provides high resolution mapping of structural variants and CNV variants 3. Available with customized coverage and hybrid short-read and long-read sequencing 4. Cost-effective low-pass sequencing for large scale GWAS studies ## Available platforms 1. Illumina NovaSeq 2. Element Biosciences AVITI 3. Oxford Nanopore PromethION ## All genetic tests in one **HIGH-RESOLUTION BASE-BY-BASE VIEW OF THE GENOME** Captures both large and small variants that might otherwise be missed Whole Genome Sequencing \(WGS\) in humans marks a revolutionary leap in understanding the complexities of human genetics, offering a comprehensive view that spans every corner of the genome. This powerful tool has become indispensable across a broad spectrum of applications, from advancing personalized medicine and improving disease diagnostics to enhancing our understanding of human evolution and diversity. ![wholeGenome](/media/images/wholeGenome.width-1500.png) ### ​ **Unveiling Genetic Mysteries with WGS** WGS provides an all-encompassing snapshot of an individual's genetic makeup, capturing not just the single nucleotide polymorphisms \(SNPs\) but also the more complex structural variants, insertions, deletions, and even epigenetic changes. This complete genetic blueprint is instrumental in identifying the genetic bases of rare and common diseases, paving the way for targeted therapeutic interventions and personalized treatment plans. In **personalized medicine**, WGS is the cornerstone of developing customized treatments. By understanding a patient's unique genetic profile, clinicians can predict the risk of diseases, tailor treatments to the individual's genetic makeup, and avoid adverse drug reactions, leading to more effective and safer healthcare. In **cancer research**, WGS is invaluable for detecting somatic mutations in tumor samples. By employing short-read sequencing, researchers can achieve the depth of coverage necessary to unearth these mutations, providing insights into tumor biology and identifying potential therapeutic targets. This approach is critical for understanding the genetic heterogeneity of tumors and for the development of precision oncology. Furthermore, **Oxford Nanopore sequencing** complements traditional short-read sequencing by offering a comprehensive analysis in a single experiment. It enables the phasing of SNPs, detection of structural variants, and methylation analysis, providing a richer, more detailed view of the genome. This technology is particularly useful in understanding complex genetic traits and diseases, as it captures the full spectrum of genetic variation. **Expanding Horizons** WGS has applications far beyond healthcare. In **ancestry and genealogy**, it offers insights into human history and migration patterns. In **forensic science**, it aids in solving crimes and identifying remains. And in **population genetics**, it helps track genetic mutations and their spread, contributing to our understanding of human evolution and diversity. At IGATech, we are committed to advancing the field of human genomics by providing state-of-the-art WGS services. Our expertise and cutting-edge technologies empower our clients to explore the human genome with unprecedented precision and depth. Whether you're investigating the genetic basis of a disease, seeking to develop personalized treatments, or exploring the human genetic diversity, IGATech offers the solutions and support you need to achieve your research goals. **end-to-end solutions** We also offer DNA extraction sample preparation service and provide full support on study design to ensure correct sequencing and bioinformatics strategies are used to meet your project goals. Our expert will consult with you about your specific requirements. ## Documents & Reports - [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)