Naomi's role within the sequencing technology research group is to focus upon the progression of new technologies and protocols within the Institute. This is to support the unique requirements of the sequencing production teams and faculty researchers.
Currently, my main work focus is the design and implementation of methods for capturing only a small subset of the genome for sequencing, commonly described as "targeted sequencing". In particular, I am developing and optimising methods for highly targeted sequencing, or capture of particularly small regions of the genome for high depth coverage of rare variants. I have focused upon two alternative methods to enable this which are non-commercial, highly cost effective, incredibly sensitive and suitable for a few or thousands of samples. I enjoy the challenge of meeting a collaborators research need with a robust and affordable solution. I look forward to future collaborations to further translate the technical experience I have gained so far into results of biological significance.
Leukemia-associated somatic mutations drive distinct patterns of age-related clonal hemopoiesis.
Cell reports 2015;10;8;1239-45
Characterization of gene mutations and copy number changes in acute myeloid leukemia using a rapid target enrichment protocol.
The sex-specific associations of the aromatase gene with Alzheimer's disease and its interaction with IL10 in the Epistasis Project.
European journal of human genetics : EJHG 2014;22;2;216-20
A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.
Nature genetics 2009;41;11;1182-90
Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size.
PLoS genetics 2009;5;4;e1000445
Rapid mass spectrometric identification of human genomic polymorphisms using multiplexed photocleavable mass-tagged probes and solid phase capture.
Organic & biomolecular chemistry 2007;5;12;1878-85