Variant Database

Previously there was an error in which the calculation was made for the CACPI control frequency. This has now been corrected.

Users can now save variants against the particular individual as a provisional variant to ranked and prioritised. Once added to the patient, these provisional variants can be used to nominate suspected variants for sanger sequencing confirmation. When confirmed, the variant can then move on to the next stage and be marked as the 'Genetic Diagnosis'.

Previously when filtering for shared variants between individuals, the variants returned were always in 100% of the specified individuals. This has now been changed to allow users to specify the sharing of variants between individuals AS A PERCENTAGE. For example, if users wanted to know of all variants shared between 2 out of 3 individuals, users can use a percentage value of 66%. The results returned will be AT LEAST 2 out of 3 individuals will share the variant. This is especially useful in large cohorts of unrelated individuals known to share similar phenotypes where there may be a suspicion of multifactorial gene expression or other complex gene interactions.

The Zygosity status assigned to each variant is now exported to Excel