I have worked as a researcher in the genetics field for just over ten years. Currently, I manage the human genetics group for the Genome Institute at Washington University, one of three large-scale sequencing centers in the United States. We use a new generation of high-throughput DNA sequencing instruments to aid our research.
Remember the decade-long, $100 million Human Genome Project? We can sequence an entire human genome in about a week for less than $5,000 using these puppies.
The rub, of course, is that the human genome contains about 3.2 billion base pairs, so these new instruments can churn out data a lot faster than we can make sense of it. My group develops and applies new computational algorithms to high-throughput sequencing data, with the goals of:
- Identifying all sequence variants (substitutions, insertions, deletions) present in an individual’s genome.
- Predicting if and how they impact important genome structures, such as protein-coding genes, and
- Determining which sequence variants and genes contribute to human disease.
Our group applies next-generation DNA sequencing technologies to study the genetic basis of:
- Aggressive cancers, specifically breast and prostate carcinoma.
- Retinal diseases such as retinitis pigmentosa (RP) and age-related macular degeneration (AMD).
- Cardiovascular and metabolic diseases, such as dyslipidemia, hypertension, and type 2 diabetes.
- Rare neonatal disorders of suspected genetic origin.
If you’d like to read more about next-generation sequencing and how it’s being applied to biomedical research, please see my research-oriented blog, MassGenomics.
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