Human Whole Genome PacBio SMRT Sequencing

Bio Basic Asia Pacific is providing PacBio SMRT sequencing for human whole genome sequencing to reveal structural variants and produce direct variant phasing information across haplotype blocks and methylation.

Through SMRT sequencing, de novo genome assemblies deliver megabase-size contig N50s, consensus accuracies above 99.99%, and phased haplotypes so scientists can generate reference quality assemblies of diverse populations to better understand the complexity of human health and disease.

Bioinformatics Analysis

  • Data quality control
  • Reference genome alignment
  • Genome preliminarily assembles
  • Genome annotation
  • SNP/ Indel identification and annotation
  • CNV/ SV identification and annotation

(More upon request)

Advantages

  • Generate references unique to a population, individual or disease.
  • Generate fully phased haplotypes to identify common alleles in the population
  • Access novel types of genetic variation and difficult-to-characterize regions
  • Use novel reference sequences to improve variant detection in population specific loci

Analysis Workflow

For more information, feel free to contact us via NGS@biobasic-Asia.com or +65 6928 9042.