Seq and You Will Find
John S. Mattick.
The human genome sequence is freely available, nearly complete and is providing a foundation
of research opportunities that are overturning our current understanding of human biology. The
advent of next generation sequencing has revolutionized the way we can interrogate the genome and
its transcriptional products and how we analyze, diagnose, monitor and even treat human disease. Personal
genetic profiles are increasing dramatically in medical value as researchers accumulate more and
more knowledge about the interaction between genetic and environmental factors that contribute to the
onset of common disorders. As the cost of sequencing plummets, whole genome sequencing of individuals
is becoming a reality and the field of personalized genomic medicine is rapidly developing. Now there is great
need for accurate annotation of all functionally important sequences in the human genome and the variations within them
that contribute to health and disease. The vast majority of our genome gives rise to RNA transcripts. This extraordinarily
versatile molecule not only encodes protein information but also has great structural dynamics and plasticity, capacity for
DNA/RNA/protein interactions and catalytic activity. It is a key regulator of biological networks with clear links to human
disease and a more comprehensive understanding of its function is needed to maximise its use in medical practice. This
review focuses on the complexity of our genome and the impact of sequencing technologies in understanding its many
products and functions in health and disease.
Keywords: Next generation sequencing, Non-coding RNA, GWAS, Personalized medicine, Capture-sequencing.
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