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Classify function in Clinical structural variants view #5074

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SofieCMD opened this issue Nov 26, 2024 · 2 comments
Open

Classify function in Clinical structural variants view #5074

SofieCMD opened this issue Nov 26, 2024 · 2 comments

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@SofieCMD
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SofieCMD commented Nov 26, 2024

It would have been good to have a the Classify function in the Clinical structural variants view as well, we use ACMG for intagenic del/dups.

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@dnil
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dnil commented Nov 26, 2024

Hi! As in this #4596 but with only the categories, not the "classify" form for starters? That sounds very doable!

About the other suggestion, the SV ACMG model classification form, while very nice, it is hard to find prio for it, so I encourage you who are actually using it to look into implement it. That also seems much less error prone than if we do it? 😸 I imagine if it suddenly exists people here might be more inclined to switch to using it... 😁

@SofieCMD
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Would like the classify form as well, regardless of #4596. In a perfect world we would like to have them both! In simple terms, we use the "Classify"-way (Richards et al) when classifying intragenic del/dups and the Riggs et al-way for bigger del/dups (contiguous del/dups), therefore it would be nice to have the form available for CNVs as well.

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