Showing posts from February, 2018

Phenotype to Genotype based variant searching

Expand your variant search based on known phenotype-genotype relationships. This filter only works if you have specified patient ids in the filters. The phenotypes collected from the specified patients are used to query OMIM for gene relationships. A new tab called 'Phenotype-Genotype' is displayed in the results showing the relationships between phenotypes and genes. This only works well for patients that have a good number of phenotypes captured in our databases.

RS number filter

Users can now search by rsNumbers in our search fitlers

Variants from cohort reports are now included

Previously only the variants from the SNV, INDEL and SV reports were included into our database. We've recently rebuilt our database to include all variants, even the questionable ones of poor quality, found in the cohort report because there are some suggestions of an inheritance pattern discovered during the pipeline pedigree analysis. This means more variants for you to browse than there was before.