Bioinformatics Techniques

Circular map showing the distribution of different classes of SVs in the human genome.

With the rapid development of sequencing technology, higher throughput at better quality can now be achieved at a lower cost. These data are being extensively used to decipher the mechanisms of biological systems at the most basic level However, this huge and growing amount of high-quality data, and the information that it can provide continue to created challenges for bioinformaticians to conquer.

Currently, four bioinformatics sub-groups at BGI, “Assembly”, “Mapping”, “Annotation”, and “Evolution & Comparative Genomics” are each focusing on analyzing and transferring cutting-edge technologies in their relevant fields to maximize the amount of information that can be gleaned from sequencing data.

Bioinformatics analysis methods:

  • Assembly: Methods to assemble short-sequencing reads into entire and accurate reference genomes
  • Mapping: Methods to compare novel sequences with a reference genome, detect variation, and analyze different expression levels
  • Annotation: Methods to add biological information to raw DNA sequence, identify the structural and functional elements, and integrate and display this information at a genomic level
  • Evolution & Comparative Genomics: Methods to construct phylogenetic trees, perform analyses in comparative genomics and population genetics to detect selective signals from comparative or population data