How is zygosity represented for large cohort analyses ?

A new type of representation was implemented to make possible the efficient analysis of large cohorts using VarSome Clinical.

The zygosity representation shown below applies for multi-sample analyses larger than 10 samples and brings together information about both the zygosity and the status (affected -  unaffected) of the samples at first glance.

With a closer look:

In this layout, each type of zygosity found for a variant is shown only once with the respective box. Next to each box reside two numbers: the number in green font corresponds to the unaffected samples having this specific type of zygosity for this variant. The number in red font corresponds to the affected samples having this type of zygosity in the dataset.

Each box is associated with this pair of color-coded numbers which provides information about both the number of occurrences in the dataset and the status of these samples in a compact manner.

The "Nearby variants in this sample" tab is modified, as well to fit more efficiently large cohort analyses of more than 10 samples using the aforementioned layout described for the "Zygosity" column.

Finally, the tab "Samples containing this variant", on the right of the variant table, reports exclusively the names of the samples carrying the variant, also color-coded in red or green font to inform about the sample status and their respective type of zygosity. Note that this tab appears in all multi-sample analyses, even those with fewer than 10 samples.