BIOTECHNOLOGY
PacBio offers several
sequencing solutions
GAINING A COMPLETE PICTURE OF THE GENOME
Neil Ward explains the transformative opportunities created by accessing the epigenome, and the advantages of native long- read sequencing over synthetic short-read linkages
G
enomic sequencing promises to advance our biological understanding of all life. With access to the full picture of genetic variation, scientists
can rapidly progress vital research – whether treating diseases in humans, capturing biodiversity or breeding crops more resistant to drought. But to fully realise the potential of genomics, scientists and researchers need a complete and highly accurate view of all genomes. Long-read genomic sequencing has already established itself as a ‘powerful player’ that has increased our understanding of DNA and RNA variation, structure and organisation. Long-read sequencing has enabled researchers to fill many of the blind spots unseen by short-read sequencing, which is limited to
30
www.scientistlive.com
read lengths of just a few hundred bases. However, taking our understanding of genetic variation to the next level requires accessing a new layer of genetic information – the epigenome. Epigenetic changes are modifications to DNA that regulate the expression of genes, without changing the sequence of codons. Methylation is a type of epigenetic change that involves methyl groups being added to the DNA – this process is key to whether or not a genetic trait is expressed and how they determine biological function in both health and disease. Until now, multiple tests have been required to evaluate methylation, but to streamline laboratory workflows and accelerate research, it’s increasingly valuable to capture both genetic and
epigenetic variation automatically in a single experiment.
A NEW LAYER OF INSIGHT Te epigenome has largely been left unexplored due to fundamental limitations of many existing sequencing technologies. Since epigenetic modifications do not change the order of genetic code, traditional short-read sequencing methods do not pick up on them as variations. Understanding subtle patterns in this rich information will uncover important new opportunities in a broad range of applications across human, plant and animal biology. For example, researchers at John Hopkins
University found that by using long-read whole genome sequencing, they were able to
Page 1 |
Page 2 |
Page 3 |
Page 4 |
Page 5 |
Page 6 |
Page 7 |
Page 8 |
Page 9 |
Page 10 |
Page 11 |
Page 12 |
Page 13 |
Page 14 |
Page 15 |
Page 16 |
Page 17 |
Page 18 |
Page 19 |
Page 20 |
Page 21 |
Page 22 |
Page 23 |
Page 24 |
Page 25 |
Page 26 |
Page 27 |
Page 28 |
Page 29 |
Page 30 |
Page 31 |
Page 32 |
Page 33 |
Page 34 |
Page 35 |
Page 36 |
Page 37 |
Page 38 |
Page 39 |
Page 40 |
Page 41 |
Page 42 |
Page 43 |
Page 44 |
Page 45 |
Page 46 |
Page 47 |
Page 48 |
Page 49 |
Page 50 |
Page 51 |
Page 52 |
Page 53 |
Page 54 |
Page 55 |
Page 56 |
Page 57 |
Page 58 |
Page 59 |
Page 60
