denovo-db is a collection of germline de novo variants identified in the human genome. de novo variants are those present in children but not their parents (see figure to right).
With the advancements in whole-exome and whole-genome sequencing we are now able to assess 1000s of these variants. To provide a landing place for de novo variation we created denovo-db, which has been assembled using the published literature.
Many large exome and genome studies have focused on neurodevelopmental disorders and while we are very interested in these disorders we have not limited our database to only these phenotypes.
The information types present in denovo-db have been refined to include what we think is highly relevant for genetic studies (for example basic functional annotation, CADD scores, and validation status).
Our goal is to provide a compendium of all de novo variants to benefit the larger researcher community and to allow researchers to ask various scientific questions such as:
- 1. Which sites in the human genome have de novo mutations?
- 2. Which sites are highly mutable to de novo mutation?
- 3. What are features of de novo variants generally and in disease?
- 4. What kinds of phenotypes are represented by de novo variants?
We hope you enjoy this database as much as we do and please feel free to email us at firstname.lastname@example.org with any updates or questions. Researchers may also send published entries through the mailing list and we will add them to the database once they have been run through our annotation pipeline.