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 |
|---|---|---|
| Mar 25, 2021 | New York Times | Scientists can now sequence an entire genome overnight. |
| Mar 24, 2021 | KSWB-TV Fox (San Diego) | New coronavirus variant detected in San Diego for 1st time |
| Mar 16, 2021 | GenomeWeb | Illumina, Geneseeq Technology to Collaborate on IVD Cancer Testing Kits in China |
| Mar 16, 2021 | Seeking Alpha | illumina inks deal with Geneseeq for in-vitro diagnostic NGS kit in china |
| Mar 14, 2021 | Bariloche 2000 (Argentina) | Una barilochense integra el equipo que desarrolló instrumento para monitorear mutaciones del coronavirus |
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