RAW or VCF Annotation (CLINVAR)

Order your VCF annotation service

RAW or VCF annotation is the process of adding additional information to a VCF (variant call format) file, (RAW files are converted to VCF before annotating them) which is a standard file format used to store DNA sequence variations, such as single nucleotide polymorphisms (SNPs) and small insertions and deletions. VCF annotation can involve adding information about the functional consequences of the variations, such as whether they are likely to impact the protein encoded by the gene or whether they have been associated with a particular disease or trait.

What is Clinvar?

CLINVAR is a database of genetic variations associated with clinical phenotypes (observable characteristics or traits). It is maintained by the National Center for Biotechnology Information (NCBI), which is part of the National Institutes of Health (NIH).

CLINVAR is a publicly available resource used by researchers, clinicians, and other healthcare professionals to help understand the relationship between genetic variations and various diseases and conditions. It contains information about genetic variants that have been reported in the scientific literature, as well as those submitted directly by researchers.

The database is updated regularly and includes information about the type of variant, the gene in which it occurs, the clinical significance of the variant (e.g., pathogenic, benign, or uncertain), and any relevant citations. CLINVAR is a valuable resource for understanding the role of genetics in human health and is used by researchers and healthcare professionals worldwide.

How can VCF annotation using CLINVAR be beneficial in my genetic research?

VCF annotation using CLINVAR can be useful for a variety of purposes, such as identifying genetic risk factors for inherited conditions, evaluating the potential impact of genetic variations on drug response, or aiding in the diagnosis of rare genetic disorders. It can also help prioritize variations for further study and aid in interpreting genetic test results.

What I will receive when I order a CLINVAR annotation service for my RAW or VCF file?

You will be provided with a VCF file that includes annotations from CLINVAR, along with a report that displays the CLINVAR annotations present in your RAW/VCF file.


Please note that the information provided in relation to VCF annotation using CLINVAR is for informational purposes only. While it can benefit genetic research and medical diagnosis, we do not guarantee the accuracy, completeness, or reliability of the annotations obtained from CLINVAR. The annotations are based on available data and may not encompass all genetic variations or provide definitive diagnoses. Furthermore, the annotations should not replace professional medical advice or be solely relied upon for clinical decision-making. By using our CLINVAR annotation service or relying on the information provided, you acknowledge and agree that we are not liable for any errors, omissions, or outcomes resulting from the use of this service. It is always recommended to consult with a qualified healthcare professional or genetic counselor for comprehensive genetic analysis and interpretation.