Biostatistics
Bernardinelli, Berzuini, Bowsher, Chiappa, Dawid, Spiegelhalter
Recent years have seen dramatic progress in understanding complex disease genetics through identifying genetic variants which predispose to such diseases as coronary artery disease (CAD), inflammatory bowel disease (IBD) and multiple sclerosis (MS). This progress is beginning to provide important clues about the causes of these conditions, and this provides a key to the development of better treatments and preventative strategies long-term.
We have
- contributed to highlighting chromosomal regions implicated in CAD, IBD and MS; developed methods to benefit from next-generation DNA sequencing and genotyping data; and identified the cellular pathogenic mechanisms that mediate the effects of the discovered genetic alterations.
- applied causal inference to highlight involvement of specific genetic variants in susceptibility to IBD, providing an understanding of this phenomenon as a functional alteration in the process of degradation of intracellular pathogens (autophagy).
- developed high-dimensional regression methods for prediction of disease outcomes, resulting in the identification of a genetic signature that predisposes to re-infarction.
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| The highest percentage of complications is found among those individuals carrying two copies of the deleterious allele at locus rs1333040 in chromosome 9. |
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