Hello dear scientists
Ideas for good articles or databases on cystic fibrosis and common or potentially pathogenic variants are most welcome. And what strategies would you suggest for carrier screening for cystic fibrosis?
With a simple internet search you would probably find all information you are looking for, but here are a few websites as starting point.
https://cftr2.org/
https://cftr2.org/mutations_history
https://www.cfdb.eu/
There are various scientific databases and resources.
1. Cystic Fibrosis Mutation Database (CFTR1): The CFTR1 database is a widely used and authoritative resource that provides detailed information on cystic fibrosis mutations. It includes information on the specific mutations, their exon locations, and associated clinical features. You can access the CFTR1 database at: http://www.genet.sickkids.on.ca/Home.html
2. Human Gene Mutation Database (HGMD): HGMD is a comprehensive database of human gene mutations, including those associated with cystic fibrosis. It provides information on the genetic basis of diseases, including the specific mutations and their exon locations. HGMD requires a subscription for full access, but it may be available through academic institutions or libraries. The HGMD website can be found at: http://www.hgmd.cf.ac.uk/
3. ClinVar: ClinVar is a public database maintained by the National Center for Biotechnology Information (NCBI). It contains information on genetic variants and their clinical significance. While it may not provide exon-specific information for all mutations, it can be a useful resource to search for known cystic fibrosis mutations and associated clinical data. You can access ClinVar at: https://www.ncbi.nlm.nih.gov/clinvar/
The field of genetics and genomics is continually evolving, and new mutations and exon locations associated with cystic fibrosis may be discovered over time. It is advisable to consult up-to-date and authoritative sources for the most current information.
Good luck
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