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Determination of genetic sequence variation across individuals with varying phenotypes is often the first step in understanding the molecular basis for disease. Resequencing entire individual genomes is now routine with next-generation sequencing (NGS) technology, and gives researchers the complete scope of genetic variations within that individual. In many cases, targeted approaches can focus sequencing on the areas where variants are most likely to be relevant, such as coding sequences targeted by whole-exome capture, lowering the cost of the experiment. Alternatively, known sequence variants can be detected more quickly and cheaply using microarray, which is often ideal for studies with a large number of samples to process. Finally, we are sometimes interested in variations in RNA, rather than DNA; in particular, RNA editing differentiates transcriptomic variants from genomic variants and informs on post-transciptional regulation in the cell. The CRI provides analysis support for numerous genomics experiments, including:

  • Variant calling and annotation:
  • Whole genome sequecing (WGS), whole exome sequencing (WES), and targeted panel genes

  • De novo assembly
  • Assembly of unknown genomes from sequencing data when no reference sequence is available

  • DNA copy number variation
  • Identification of abnormal number of DNA copies against reference

  • Gene fusion
  • Identification of hybrid gene formed from two previously separate genes