Results links are sent to the e-mail specified on the submission form and are available for download for 30 days since creation.
MendelVar produces the following output:
mendelvar.log – log file useful to check for any errors or dropped top variants from the input.
Sample log file:
input_file.bed - input submitted by user
disease_overlap.txt - overlap of user test intervals with Mendelian-disease causing genes
variant_overlap.txt - overlap of user test intervals with Mendelian-disease causing variants
.out.inrich.parsed - files with processed INRICH results
.out.inrich - files with raw INRICH results
.pdf and .png summary enrichment figures
Average run time using 100 single variant positions, interval generation with LDLink and enrichment testing using all ontologies is 5-10 hours. In order to obtain MendelVar results more quickly, run MendelVar using user pre-defined or custom fixed intervals and a smaller selection of ontologies, for instance only HPO and DO with their respective slims.