Opening Up the Human Exome – DNA Squencing for the 21st Century
People often think our products cover the entire genome, i.e. the DNA information contained in all the chromosomes. This would make ours a very unwieldy antibody catalog indeed, since the human genome alone covers some 3 billion DNA base pairs! What they really mean is the exome, that part of the genetic blueprint which responsible for encoding proteins and synthesising genes and functional genetic products. Called exons, these genes comprise just 1.5% of the human genome – yet are responsible for 85% of all diseases, and are at the heart of our antibody database.
DNA sequencing, i.e. the deciphering of DNA bases, is the key to protein research. However, before deciding what genes to target and which antibodies to use, clinical researchers first have to sift through thousands of hard-to-interpret non-coding sequences. This whole-genome method is both time consuming and costly.
Recently, disease researchers have been using new methods of sequencing that avoid the whole-genome approach, instead focussing on specific areas of the genome of interest to their area, i.e. the exome. Called exome capture, it specifically targets this area of the human genome, in particular the exons (around 180,000 in all) most likely to have disease-linked mutations. Some researchers fine-tuned this further still. One study was limited to X chromosome exons, while another targeted both coding and noncoding sequences of 21 genes specific to cancer.
Exome capture is both time and cost effective. Most researchers aren’t interested in the entire genome, and are often unable to interpret the non-coding sequence variants within the sample anyway. Their aim is to fit as many useful antibody assays into the available time-frame as possible.