lab photoTo generate genotype data, Nikki Villarasa, M.S., begins the process of preparing bead chips containing patients’ DNA hybridized to DNA arrays. She will then load the bead chips into a reader.

Targeted DNA Sequencing Using State-of-the-Art Next Generation Technology

  • Illumina HiSeq 2000
  • Illumina Genome Analyzer IIx (GAIIx)
  • Life Technologies Solid3 (SOLiD3)

Illumina Sequence analysis pipeline software suite:

Sequence analysis pipeline software suite is hosted on the state-of-art computing facilities for Illumina Genome analyzer II & Illumina HiSeq 2000 sequencer. It enables STSI research scientists to transform massive-scale data into biologically relevant information. It generates nucleotide base calls with calibrated quality metrics and quality-scored alignments and creates genomic builds, calls SNPs, and counts reads from data generated from one or more high throughput sequencing runs.

High Throughput Genotyping

  • Sequenom MassArray iPLEX genotyping (custom content: 1-25 SNPs)
  • Illumina Goldengate genotyping (384-1536 SNPs) for fixed and custom content
  • Illumina Infinium whole-genome genotyping products, including:
    • Human660W-Quad beadchip kits
    • Human1M-Duo beadchip kits
    • HumanOmni-1 Quad beadchip kits
    • HumanCytoSNP-12 beadchip kits