Not an expert on CNVs. I have a few samples from children with autism and their typically-developing siblings, which contain a few previously identified CNVs. Would like to get a sense if these CNVs have been reported in association with developmental phenotypes (autism, intellectual disability, dysmorphic features, etc). Wondering if their is a streamline way (a database?) to assess these loci in the previously published literature.
This is a good question coming up periodically. When I have this problem I usually check the DECIPHER database (available at https://decipher.sanger.ac.uk/). You may get answers from there, as it includes an estimation of how every gene is likely to be involved in haploinsufficiency. Not every CNV has links to bibliography, but it is certainly of help.
1000 genomes or other databases may also be of help (you will find the common "wild type" human variation there).
I was at an Autism conference and heard about this database: https://gene.sfari.org/autdb/Welcome.do
It is more Autism focus but it has genetics information, animal models etc all in one place. Maybe a good place to start. Good Luck. Would love to her more about your interest!
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