cherrylab.bsky.social
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I feel compelled to say that this powerful resource that Leah has provided for our field would not have been possible without the High Performance Computing cluster at Seattle Children's supported in part by....Indirect Costs!
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I couldn't be more proud of Leah and the contributions that she made to retinal disease variant interpretation while in our lab! Congratulations Leah on your new adventures as a Research Scientist III in the Pavel-Dinu Lab at Seattle Children's!
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Take home points:
1) Interpretable models trained on scATAC are accurate and cell-class-specific.
2) Models identify emergent features of enhancers such as putative TF binding motifs.
3) Variant Impact Prediction scores allow quick prioritization of retinal disease associated regulatory variants.
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Leah's excellent manuscript describing these analyses is now live: www.biorxiv.org/content/10.1....