Sequencing & Genotyping

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