Cian O’Donnell on Nostr: Big fan of this plot showing ASD gene 'risk' on y-axis (i.e. the relative increase in ...
Big fan of this plot showing ASD gene 'risk' on y-axis (i.e. the relative increase in diagnosis likelihood if you have a genetic variant) vs variant prevalence on x-axis (fraction of general population with that genetic variant).
Some high-risk genes that are rare (top left) and other low-risk genes that are common in population.
Common phenomenon seen in many disorders: high impact mutations don't often get propagated to the next generation.
From Willsey et al 2022:
https://www.nature.com/articles/s41583-022-00576-7 
Published at
2024-09-23 15:01:22Event JSON
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"content": "Big fan of this plot showing ASD gene 'risk' on y-axis (i.e. the relative increase in diagnosis likelihood if you have a genetic variant) vs variant prevalence on x-axis (fraction of general population with that genetic variant).\n\nSome high-risk genes that are rare (top left) and other low-risk genes that are common in population.\n\nCommon phenomenon seen in many disorders: high impact mutations don't often get propagated to the next generation.\n\nFrom Willsey et al 2022: https://www.nature.com/articles/s41583-022-00576-7\n\nhttps://static.mstdn.science/media_attachments/files/113/187/447/393/338/023/original/e5416291b13aa386.png",
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