Germline variant calling plays a crucial role in unlocking the mysteries encoded within our DNA and helps us understand the unique genetic variations passed down from generation to generation.
Beyond the exploration of heritage, germline variant calling plays a pivotal role in understanding the causes of hereditary diseases. By identifying genetic markers associated with conditions like cystic fibrosis or certain cancers, we gain valuable tools for predicting and preventing health challenges that may affect not only ourselves but also our descendants. The utility of germline variants relies on accurate sequencing quality, which the UG 100 delivers on.
- Advanced machine learning algorithms that are part of the ecosystem that comes with the UG 100
- Accurate SNP (F1 > 99.5%) and Indel (F1 > 99%) variant calls
- High accuracy copy number variant calls
- At only $100/genome, gain more insights from larger and better powered studies
- Applications include Clinical genomics, population studies, shallow WGS
