High-resolution gene sequencing technology

Researchers from Sydney’s Garvan Institute of Medical Research have developed CaptureSeq (capture sequencing) - a gene sequencing technology that is said to explore the human genome at a much higher resolution than ever before. A study published in the journal Nature Methods found the technology was able to measure the activity of many specific genes in a sample - even when they are expressed at minute levels.

Until recently, it was thought that humans have around 20,000 genes - sections of DNA that are ‘transcribed’ into RNA molecules, then ‘translated’ into the proteins that perform tasks in cells. But protein-coding genes occupy only 2% of the genome; the other 98% is made up of genes that do not code for proteins.

Most non-protein-coding genes are expressed only in a few cells or at very low levels, making them difficult to study. The researchers explained that they compared CaptureSeq with qRT-PCR and RNA-seq “in terms of their ability to assemble and quantify long non-coding RNAs and novel coding exons across 20 human tissues”.

The new technology was found to explore specific stretches of the human genome at much higher resolution than current RNA sequencing approaches. The team stated, “CaptureSeq was superior for the detection and quantification of genes with low expression, showed little technical variation and accurately measured differential expression.”

The researchers believe CaptureSeq will also enable rapid detection of diseases where diagnosis is guided by gene expression and the genes involved are known. For example, fusion genes (two genes fused together) are found in many blood cancers - there are at least 200 in leukaemia alone - but existing amplification-based technology can search for only one fusion gene at a time. CaptureSeq can test for all 200 known fusion genes at once, saving time, money and potentially, lives.

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