Genomics transforms how we understand ourselves and the world around us. Our research fuels innovative ways to study, diagnose, and treat disease. It paves the way to aggregate data, analyze it, and interpret it for meaningful insights. See the latest here:
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Featured Publications
- Chen, X, et al. Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data. Genetics in Medicine. 2020;22(5):945-953.
- Dolzhenko, E, et al. ExpansionHunter Denovo: A computational method for locating known and novel repeat expansions in short-read sequencing data. Genome Biology. 2020;21(1):102.
- Dolzhenko, E, et al. Detection of long repeat expansions from PCR-free whole-genome sequence data. Genome Research. 2017;27(11):1895-1903.
- Jaganathan, K, et. al. Predicting splicing from primary sequence with deep learning. Cell. 2019;176(3):535-548.
- Sundaram, Lakshmi at. al. Predicting the clinical impact of human mutation with deep neural networks. Nat Genet. 2018;50(8):1161-1170.
- Chen, X, et al. Cyrius: accurate CYP2D6 genotyping using whole genome sequencing data. biorXiv. 2020.
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In the News
| Date | Publication | Title |
|---|---|---|
| 26-Feb-2021 | Investor's Business Daily | Coronavirus Mutations: Why The Battle Against Covid Is Just Beginning |
| 25-Feb-2021 | BioPharma Reporter | German program using whole genome sequencing to diagnose rare diseases and cancer risk |
| 25-Feb-2021 | Kaiser Health News | Have a Case of a Covid Variant? No One Is Going to Tell You |
| 17-Feb-2021 | Cambridge Independent | Illumina Accelerator Cambridge announces four chosen genomics start-ups and £20m match-funding pledge |
| 17-Feb-2021 | Associated Press | Government rushes virus gene-mapping as mutations spread |
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