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The major research focus of my group is understanding the relationship between genotype and phenotype. This includes research in personalized medicine, understanding disease mutations, and working with next-generation sequencing technologies and protein sequence.
I have analyzed the personal genome of Craig Venter in great detail. I have shown that genome sequencing can help improve individual drug prescriptions by studying Dr. Craig Venter’s and Dr. Jim Watson’s genomes. I have also recommended guidelines to direct-to-consumer genetic companies such as 23andMe and Navigenics for improving disease risk predictions.
Understanding Disease Mutations
A large proportion of Mendelian disease can be attributed to mutations in coding genes. I created the SIFT algorithm (http://sift-dna.org) to predict the effect an amino acid substitution has on protein function. The SIFT algorithm is often applied to nonsynonymous variants.
As a Senior Bioinformaticist at Illumina, I designed the content for the microarrays used in genome-wide association studies. Later, I assessed next-generation sequencing technologies to observe what can be expected of the new technologies.