基因组学改变了我们了解自己和周围世界的方式。我们的研究为了解、诊断和治疗疾病提供了创新的方法。它为汇集、分析和解读数据并获取有意义的信息铺平了道路。此处可查看近期的新信息。
特色文献
- 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.
新闻报道
| 日期 | 发表 | 标题 |
|---|---|---|
| 2021-2-25 | Kaiser Health News | Have a Case of a Covid Variant? No One Is Going to Tell You |
| 2021-2-25 | BioPharma Reporter | German program using whole genome sequencing to diagnose rare diseases and cancer risk |
| 2021-2-17 | Cambridge Independent | Illumina Accelerator Cambridge announces four chosen genomics start-ups and £20m match-funding pledge |
| 2021-2-17 | Associated Press | Government rushes virus gene-mapping as mutations spread |
| 2021-2-17 | Bloomberg Technology | Illumina's deSouza on Tech Growth and Need for a Bio Force |
