As part of the East London Genes and Health Project, I am analysing exome-sequence data from British South Asian individuals with high levels of parental relatedness, in order to identify homozygous loss-of-function mutations that could be informative about gene function and, potentially, new drug targets. Additionally, I am working on the Deciphering Developmental Disorders project, trying to develop and apply methods for identifying new recessive disease genes in severe Mendelian disorders.
During my PhD in the Donnelly group in Oxford, I worked on the WGS500 project (clinical whole-genome sequencing of various disorders), patterns of recombination in humans, and population-based sequencing of the platypus. As part of WGS500, I analysed data from families with severe neurological diseases (early-onset epilepsy, plus some novel syndromes), and also evaluated different approaches for pinpointing causal mutations. I also conducted a meta-analysis of multiple cohorts in order to address the effect of maternal age on recombination rates, which had previously been controversial. Finally, I worked on a project that involved sequencing about 60 platypus samples from different parts of Australia to investigate the population genetics and history of this unique species, as well as its ten sex chromosomes.
Factors influencing success of clinical genome sequencing across a broad spectrum of disorders.
Nature genetics 2015;47;7;717-726
Multicohort analysis of the maternal age effect on recombination.
Nature communications 2015;6;7846
Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis.
Human molecular genetics 2014;23;12;3200-11
Imperfect centered miRNA binding sites are common and can mediate repression of target mRNAs.
Genome biology 2014;15;3;R51
Evolution of a membrane protein regulon in Saccharomyces.
Molecular biology and evolution 2012;29;7;1747-56