Whole Genome Sequencing

We also offer support for DNA extraction before library preparation for a variety of sample types, in addition to advanced bioinformatics services for comprehensive data analysis. Advances in library preparation methods, such as Illumina DNA Prep, enable rapid and reliable workflows with low input amounts. We also offer PCR-free methods to minimise amplification bias, enhancing the quality of the genomic DNA sequence produced.

For sequencing novel organisms, we provide de novo assembly, combining shorter Illumina reads with long-read technologies to generate an accurate DNA sequence for previously uncharacterised species. Our WGS services include both short read and long-read sequencing, ensuring robust and high-quality sequence data suitable for gene sequencing and clinical interpretation.

Germline Variant Analysis:

• Identification of germline SNPs, insertions, and deletions (INDELs) from whole genome or exome sequencing data.
• The analysis workflow involves trimming raw reads, alignment to a reference genome, deduplication, recalibration, variant calling, filtering, and annotation using public databases such as dbSNP and ClinVar.
• Deliverables include raw (fastq), aligned (bam), and variant call format (VCF) files listing all detected variants, along with a comprehensive bioinformatics report detailing tools used, alignment metrics, and variant quality statistics.
• Access to Relyter, an interactive online variant viewing tool, is also available, providing an easy way to explore your genomics data.

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Somatic Variant Analysis:

• Identification and quantification of somatic SNPs and INDELs in cancer samples through comparison with either a matched healthy sample or a reference genome.
• The analysis involves trimming raw reads, alignment, deduplication, somatic variant calling, and annotation using databases such as GENCODE and dbSNP.
• Deliverables include raw (fastq), aligned (bam), and VCF files listing all detected somatic variants, along with a detailed bioinformatics report summarising alignment metrics, contamination assessment, and variant quality.
• This service is especially useful in genomic testing related to cancer research and clinical trials.

Genomics@sourcebioscience.com

Contact us today to schedule a free consultation with one of our skilled account managers, who will provide more information and pricing details tailored to your project. We can also discuss previous case studies that demonstrate the success of our WGS services for various research and clinical applications. 

Payment options:

Payment can be made by credit card or purchase order number.

FAQ's:

View our frequently asked questions for more information about our sequencing service, genomic testing requirements, and more.

Sample requirements:

● We require 1-2 μg of genomic DNA (gDNA) with an OD260/280 ratio between 1.8 and 2.0, at a minimum concentration of 50 ng/μl, and in a minimum volume of 20 μl. Higher concentrations are acceptable and will be diluted accordingly. For detailed requirements, click here.