Core Technologies

Genomics and Genome Technologies

image5.jpeg The Genetic and Genome Technology Core is a state-of-the-art facility that supports research projects in complex diseases, such as diabetes, cancer, and neurodevelopmental disorders. The facility works closely with highly regarded scientists and international institutes for unravelling the "Big Data" from Next Generation Sequencing, high-throughput genotyping, digital PCR, gene expression, and single-cell genomics. The application of high stringency quality controls to yield high quality data and the integration of insights from multidisciplinary fields of research at QBRI will enable the translation towards more precise therapeutic strategies.

The core facility consists of the following units:
  • The Real Time RT-PCR unit for detection and quantification of amplified DNA in real time using either fluorescent DNA intercalating dyes or TaqMan probes.
  • The Sanger Sequencing unit for sequencing of short segments of up to 1kb in length, enabling detection of unknown or known mutations, small insertions or deletions (indels), and validation of variations detected by massively parallel sequencing.
  • The Genotyping and Molecular Karyotyping unit for array-based SNP Genotyping enabling family and large population studies including gene mapping and linkage analysis, linkage disequilibrium and haplotype identification, and detection of Copy Number Variations (CNVs).
  • The Massively Parallel Sequencing unit which offers Targeted Panel Sequencing (TPS), Whole Exome Sequencing (WES), and Whole Genome Sequencing (WGS).

A virtual tour of the Genomics and Biophysics facility can be seen here.

Services

Sanger Sequencing unit

  • 3130xl 16 capillaries genetic analyzer
  • 3500dx 24 capillaries genetic analyzer
  • 3730xl 96 capillaries genetic analyzer

Genotyping and Molecular Karyotyping unit

  • HumanOmni BeadChip System (Illumina)
  • iScan System (Illumina)

Massively Parallel Sequencing unit

  • SOLiD 5500xL and IonTorrent/PGM (Life Technologies)
  • Two MiSeq and one HiSeq 2500 (Illumina)
  • Thunderstorm High-Throughput Sequencing System (Raindance Technologies)

3730xl DNA Analyzer
(Life Technologies)

iScan System
(Illumina)

SOLiD 5500xL
(ABI)

IonTorrent/PGM
(Life Technologies)

MiSeq
(Illumina)

HiSeq 2500
(Illumina)

Thunderstorm High-Throughput Sequencing System

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