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.
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.
Multimedia Highlights
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In the News
| Date | Publication | Title |
|---|---|---|
| Nov 13, 2020 | Fierce Biotech | Microsoft, Illumina, Twist ally to make big data small by weaving it into DNA archives |
| Nov 13, 2020 | Investor's Business Daily | Wild Ride For Illumina Stock Shows Promise, Challenge Of Multi-Cancer Blood Tests |
| Nov 12, 2020 | GenomeWeb | DNA Data Storage Alliance to Work on Interoperability, Industry Roadmap |
| Nov 12, 2020 | SeekingAlpha | Twist Bioscience and Illumina part of alliance to advance DNA data storage |
| Nov 12, 2020 | GeekWire | Microsoft helps found an industry alliance to advance DNA data storage systems |
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