Whole Genome Sequencing

Human Genome Solutions

Whole Genome Sequencing

Human whole genome sequencing enables researchers to catalog the genetic constitution of individuals and capture all the variants present in a single assay. It is applied to the study of cancer and a variety of diseases, as well as human population evolution studies and pharmacogenomics.

NovogeneAIT is one of the first few companies in South East Asia employing the powerful Illumina HiSeq X Five, capable of sequencing up to 9,000 human genomes per year at the lowest cost per genome. We have extensive experience providing whole genome sequencing service on this powerful system, having successfully sequenced thousands of genomes with high quality results. With the throughput and capacity of the HiSeq X Five, our deep experience with the system, and our advanced bioinformatics capabilities, NovogeneAIT is able to expertly meet customer needs for executing large projects with timely turn-around and the highest quality results.

Whole Exome Sequencing

Exome sequencing provides a cost-effective alternative to whole genome sequencing as it targets only the protein coding region of the human genome responsible for a majority of known disease related variants. Whether you are conducting studies in rare Mendelian disorders, complex disease, cancer research, or human population studies, NovogeneAIT’s comprehensive human whole exome sequencing service provides a high-quality, affordable and convenient solution.

NovogeneAIT’s bioinformatics analysis includes data QC, mapping with reference genome, SNP/InDel, somatic SNP/InDel calling, statistics and annotation. Novogene utilizes internationally recognized software in bioinformatics analysis, e.g. BWA, SAMtools, GATK, etc.

In particular, NovogeneAIT bioinformatics pipeline includes annotation with the exome aggregation consortium (ExAC). ExAC dataset spans 60,706 unrelated individuals sequenced as part of various disease-specific and population genetic studies. This population scale database greatly facilitates research of disease pathogenesis.


Sequence With Us

De novo Whole Genome Sequencing

De novo whole genome sequencing is required for uncharacterized genomes with no reference genome available, or for known genomes where significant structural variation is to be expected. For a successful de novo genome assembly, a special library preparation approach is required which usually combines small fragment libraries and mate pair libraries. 

Our de novo whole genome sequencing solution includes:

  • Short fragment, mate pair and PacBio SMRTbell library preparation
  • High-throughput sequencing on Ion Torrent, Illumina and PacBio platforms
  • Data analysis, which includes:
    • QC and data filtering
    • Assembly of reads (short-read/PacBio/hybrid)
    • Gene prediction and annotation
    • Other customized analysis

Whole Genome Resequencing

For genomes with available genome references, whole genome resequencing can be carried out to study genetic variation such as SNPs, Indels, or structural variations. Whole genome resequencing can be carried out on a wide range of samples such as microbial, animal, plant, human or microbial samples.

Our whole genome resequencing solution includes:

  • Library preparation services
  • High-throughput sequencing on Ion Torrent, Illumina and PacBio platforms
  • Data analysis, which includes:
    • QC and data filtering
    • Read alignment to reference genome
    • Variant calling
    • Variant annotation
    • Other customized analysis