Genetic Analysis and Sequencing
QIMR Berghofer’s Genetic Analysis and Sequencing Facility includes Next Generation and Capillary Sequencing, the facility uses several sequencing platforms and supporting auxiliary instruments. DNA Sequencing and Next Generation sequencing is used in molecular biology to study genomes, transcriptomes and the proteins they encode.
Information obtained through sequencing allows researchers to identify phenotypes in cancers, diseases and complex disorders by changes in genes and gene associations. This data has the potential to help identify potential drug targets and vaccine candidates and influence patient outcomes in clinical applications.
Our Sequencing services employ capillary sequencing and both long read and short read Next Generation sequencers to deliver consistent high quality genomics data.
Sequencing capabilities
Our facility houses a comprehensive range of instrument platforms that can be utilised to facilitate all Next generation and Capillary sequencing requirements.
- RNAseq using mRNA capture and rRNA depletion for library transcripts.
- identification of Crispr inserts or deletions using NGS and Capillary sequencing.
- Chromium 10X single cell barcoding for gene expression and Antibody capture NGS.
- Human exome capture including TSO500 clinical exome panels and Human Exome panels.
- verification of pcr amplicons and plasmids using Capillary sequencing.
- authentication of human cell lines using STR profiling.
- fragment sizing for gDNA, cDNA amplicons and Quality scores on RNA extracts.
- long-range epigenetic changes, structural variants, and single nucleotide polymorphisms can be identified and phased in a single dataset on the Oxford Nanopore.
- accurately characterise splice variation with long nanopore sequencing reads.
- full-length reads for plasmid cell lines
- enhance variant calling and phasing with long nanopore sequencing reads
- full-length sequencing of fusion transcripts.
Sequencing team
Paul Collins
Tu Parsons
Nadine Fitzpatrick
Jenny Quiatchon
Sequencing platforms and support instruments
Illumina Nextseq 2000
Oxford Nanopore Promethion 24 – Long read genetic sequencer
Synergy Neo - Fluorometric, Luminescence and UV/Vis assays.