All genetic tests in one
Captures both large and small variants that might otherwise be missed
Whole-genome sequencing (WGS) delivers a comprehensive view of the entire genome. It is ideal for discovery applications, such as identifying causative variants and large structural rearragement. WGS provides a nearly complete picture of single nucleotide variants, insertions/deletions, copy number changes and large structural variants.
WGS of any species without PCR-introduced bias
Library preparation and sequencing
Our workflow begins with purified genomic DNA. PCR-free library preparation is used to generate libraries in order to prevent biases inherent in PCR amplification that result in uneven read coverage and increase the numbers of duplicate fragments present in the library. We also use 10XGenomics Chromium System for library preparation. The system implements the power of short reads linking allowing for reconstruction of haplotype blocks greater than 10 Mb. This provides long range information on a genome-wide scale, including variant calling, phasing and extensive characterization of genomic structure, critical for identification of alterations in cancer.
Sequencing is performed on a NovaSeq6000 in 2x150 bp paired-end mode.
Several QC steps are performed during the sample processing ensuring the delivery of the highest quality data available.
Bioinformatics Analysis
Genome resequencing - standard bioinformatic analysis includes:
- Base calling and demultiplexing
- Alignment to reference sequence
- Quality control and improvement of reads
- Variant calling (SNP, small indels, SVs)
- Coverage statistics and metrics
Variant summary report including variant coordinates and changes, functional annotation in an Excel-compatible file.
Genome resequencing - advanced bioinformatic analysis includes:
- Comparative genomic analysis - characterize differences and similarities between whole genomes. May be applied to both genomes from individuals from different species or individuals from the same species.
- Identification of somatic and germline structural variants
- Event-specific insertion analyisis
De novo assembly
- Genome assembly with state-of-art algorithms (kmer-based, OLC or hybrid)
Contig and scaffold sequences from de novo assemblies are delivered in FASTA format. QC and analysis report are provided as well. You can find more details on de novo assembly service here.
WGS is commonly associated with sequencing human genomes, however, the scalable and flexible nature of NGS makes it equally useful for sequencing any species, from agriculturally important livestock to plants and disease-related microbes.
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.