Whole-genome sequencing is the most comprehensive method for analyzing the genome. Genomic information has been instrumental in identifying inherited disorders, characterizing the mutations that drive cancer progression, and tracking disease outbreaks. Rapidly dropping sequencing costs and the ability to produce large volumes of data with today’s sequencers make whole-genome sequencing a powerful tool for genomics research. While whole-genome sequencing is commonly associated with sequencing human genomes, the scalable, flexible nature of next-generation sequencing (NGS) technology makes it equally useful for sequencing any species, such as agriculturally important livestock, plants, or disease-related microbes.

Unlike focused approaches such as exome sequencing or targeted resequencing, which analyze a limited portion of the genome, whole-genome sequencing delivers a comprehensive view of the entire genome. It is ideal for discovery applications, such as identifying causative variants and novel genome assembly. Whole-genome sequencing can detect single nucleotide variants, insertions/deletions, copy number changes, and large structural variants. Due to recent technological innovations, the latest genome sequencers can perform whole-genome sequencing more efficiently than ever.

Advantages of whole genome sequencing

• Provides a high-resolution, base-by-base view of the genome
• Captures both large and small variants that might otherwise be missed
• Identifies potential causative variants for further follow-on studies of gene expression and regulation mechanisms
• Delivers large volumes of data in a short amount of time to support assembly of novel genomes

Whole genome sequencing workflow

First, as for any of our sequencing services, we perform a quality analysis of the DNA samples provided to us by you. Only when the provided genomic DNA is of sufficient quality and quantity will we proceed with the next steps. In case the DNA provided to us is of insufficient quality and/or quantity, we will contact you and discuss how to proceed.

Then, we perform a random fragmentation of the genomic DNA samples followed by size selection of the resulting fragments. This is followed by a second quality control step in which the resulting DNA concentration is determined and the DNA is checked for degradation.

In the next steps, from your DNA samples, sequencing libraries are prepared by adding indexes and primer adapters. After another quality assessment step these libraries are sequenced on our Illumina sequencers. The technical quality of the sequencing run is monitored in real time.

Sequencing data can be transferred to you via the Illumina BaseSpace platform or our own server (FTP download).

If you have more questions, please feel free to contact us.