Frequently Asked Questions

How should I cite SORVA?

Please cite our flagship paper, below:
Rao AR, Nelson SF. Calculating the statistical significance of rare variants causal for Mendelian and complex disorders. BMC Medical Genomics. 2018;11:53. doi:10.1186/s12920-018-0371-9.
NCBI link

What genome build is the SORVA data based on?

All data are based on GRCh37/hg19.

What gene set was used to annotate variants?

Ensembl release 75.

What do you mean by "a variant anywhere in the gene"?

An individual has to be heterozygous or homozygous (depending on the criteria you select) for a variant within an exon of the given gene, or in a spice site region defined as the 2 base pairs surrounding an exon. Variants in intronic regions, upstream or downstream variants, and variants found in the UTRs are not counted.

Which gene transcripts does the count refer to?

If an individual had a variant in any transcript of the gene, they were counted. Counts will approximate those of the canonical, or longest, transcript of the gene. We plan to add transcript-specific counts in the future.

I'm getting strange results. Is there anything I should be aware of?

Not that we know of. Please submit a bug report by contacting us!