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Variant prioritization #53

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AlistairNWard opened this issue Jul 25, 2024 · 4 comments
Open

Variant prioritization #53

AlistairNWard opened this issue Jul 25, 2024 · 4 comments
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@AlistairNWard
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AlistairNWard commented Jul 25, 2024

We should look into this. Can we better order the list of variants to give users a good chance of clicking through the variants. Inheritance could be an initial step

@emersonlebleu
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First pass on this to me is filtering and sorting (de novo, gene overlap filters), allowing the user to sort by number of overlapped genes, or percentage of phenotypes accounted for by genes overlapped.

@AlistairNWard
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Conversation for Tom. Can we also assign a quality to the variants? Low confidence variants can be add the end of any priority list

@emersonlebleu
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It was suggested that we may be able to add some kind of statistic to rank these which is possible we can look into that.

@emersonlebleu emersonlebleu self-assigned this Sep 9, 2024
@emersonlebleu
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Maybe a fishers exact for calculating a basic version of this.

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