Decide what to add to dashboard stats

Clinical-Genomics / scout

VCF visualization interface

https://clinical-genomics.github.io/scout

BSD 3-Clause "New" or "Revised" License

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Open northwestwitch opened 5 years ago

northwestwitch commented 5 years ago

Suggestions by @vwirta :

Type of causative vars (snv/SV) and the specific subcategory (frameshift, stop codon etc.)
Compounds
Clinvar classification of our causatives
Population frequency of our causatives
What type of causatives are found each month (thanks to which technology: NGS/WES/RNASeq)

To be discussed after summer in a meeting with people from the hospital as well?

dnil commented 5 years ago

Easy:

More advanced:

Number of variants passing clinical filter + frequency filter / rank score cutoff
Inheritance model for causatives (trios) (AD, AD de novo, AR, X, MT, somatic, ...)

dnil commented 5 years ago

Gene stats is also in demand: how many distinct genes with causatives? Also recurrent genes, and single patient ones.

dnil commented 4 years ago

From @4WGH:

in the variant statistic

show the number of causative variants (total number of variants)

if possible even how many as pathogenic, LP, or VUS