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:

mendelvar.log

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

MendelVar runtime

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.