Targeted germline sequencing refers to a specific method of genetic sequencing that focuses on analyzing the DNA in an individual's germline cells. Germline cells are the cells responsible for passing genetic information from one generation to the next, including sperm and egg cells.Targeted germline sequencing is commonly used in various applications, including genetic testing, research studies, and clinical diagnostics. It can be employed to identify specific genetic variants associated with certain diseases or conditions, assess an individual's risk of developing a particular disorder, or determine if an individual is a carrier of certain genetic mutations. Targeted germline sequencing has significantly contributed to our understanding of genetic factors in various diseases and has paved the way for personalized medicine by allowing tailored genetic testing and risk assessment. It has been particularly valuable in identifying disease-causing mutations in rare genetic disorders and in guiding clinical decision-making for inherited conditions.AUGMET offers -
- Validated against all mainstrem chemistries- Twist, Agilent,NEB, or any other hybrid cap Support for amplicon libraries
- CNV calling - Dynamic baseline build for unmatched sensitivity, Average diagnosis yield increase by percent, Ability to pick up 2 exon CNVs
- Familial Analysis
- AI based Variant prioritization