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Document criteria filled out by InterVar and AutoCNV #429
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Intervar Criteriasee Methods > Criteria and Scoring System Automated criteria
Non automatically scored criteriaPS2, PM6 - de novo status of variant |
AutoCNVAutomated scorings
Non automatically scored criteriaSection 2 - 2J, 2K - patient phenotype consistency with LOF of gene |
@holtgrewe @gromdimon @sczakihl I have added a table and written a brief text in the comparison section of the paper. Just realized that the CNV rule numbering greatly differs between dels and dups. So the current table is a bit incomplete. |
@xiamaz will you update the table here as well? |
@holtgrewe Which table do you refer to? |
@xiamaz this one ;-) |
@holtgrewe Only if you actually need that info in a figure, as the AutoCNV paper is not very clear on some details. |
Co-authored-by: Max Zhao <[email protected]>
Is your feature request related to a problem? Please describe.
We currently do not explain well the ACMG criteria filled out by InterVar and AutoCNV.
Describe the solution you'd like
We should both summarize the criteria and refer to the InterVar and AutoCNV publications.
Describe alternatives you've considered
N/A
Additional context
N/A
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