Annual Scientific Report 2015

Birney Group
Nucleotide Data
DNA sequence remains at the heart of molecular biology and bioinformatics.
The Birney research group focuses on developing sequence algorithms and using
intra-species variation to explore elements of basic biology.
Dr Birney’s group has a long-standing interest in
developing sequencing algorithms. Over the past few
years they have focused on data compression, developing
first theoretical then practical implementations of
compression techniques. Dr Birney’s ‘blue skies’
research includes collaborating with Dr Nick Goldman
on a method to store digital data in DNA molecules. The
Birney group continues to be involved in this area as
new opportunities arise, for example the application of
new sequencing technologies (in particular with Oxford
Nanopore) and the integration of these methods with
imaging techniques.
The other of strand of the group’s research involves
using natural DNA sequence variation to understand
basic biology. Since 2010 there has been a tremendous
increase in the use of genome-wide association studies
to understand human diseases. This approach is very
general and can be applied outside the arena of human
disease. Association analysis can be applied to nearly
any measureable phenotype in a cellular or organismal
system where an accessible, outbred population is
available. We are pursuing association analysis for
a number of molecular (e.g. RNA expression levels,
chromatin levels) and basic biology traits in a number
of species where favourable populations are available,
including human and Drosophila.
We are also exploring molecular and physiological traits
in human, for example 4D resolution of human hearts in
healthy volunteers. We hope to expand this to a variety
of basic biological phenotypes in other species, including
establishing the first vertebrate near-isogenic wild panel
in Japanese Rice Paddy fish (Medaka, Oryzias latipes).
Visualisations of low dimensional
projections of sources of variance in
healthy human hearts on idealised 3D
model of the human heart.
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2015 EMBL-EBI Annual Scientific Report