@samfin.bsky.social
Pediatrician and Clinical Geneticist at UW/Seattle Children’s. (PGY4) PhD in Machine Learning for Healthcare Past: Harvard Med, MIT, Stanford
Project is still pretty fresh with many new features in the works, and probably still some bugs. We welcome community feedback!
rxmatcher.org
Clinician status is not required to subscribe to new submissions involving genes or treatments.
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The AI tool accepts unstructured text, a PDF, or a URL to a pubmed article and will automatically extract the features for your review.
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Reports can be submitted manually, using an AI assist tool, or via bulk file upload.
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If submitters have opted in to contact, verified clinicians can also use RxMatcher to facilitate e-connections. (Email addresses not made public)
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Example treatment report. We plan to have these linked to from GeneReviews in the near future.
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Anyone can browse the database, which will include published and unpublished case reports submitted by our users.
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Sharing a side project!
RxMatcher is an online platform for sharing experiences using off-label drug or nutraceutical treatments for patients with genetic disorders.
Evo, a 7-billion-parameter genomic foundation model, learns biological complexity from individual nucleotides to whole genomes.
Pretraining a genomic foundation model across prokaryotic life.
Fine-tuning on CRISPR-Cas sequences enables generative design of protein-RNA complexes.
Fig. 4. Fine-tuning on IS200/IS605 sequences enables generative design of transposable biological systems.
Evo: A genomic language model of prokaryote genomes generates functional cas9 proteins and transposons.
@brianhiestand.bsky.social
www.science.org/doi/10.1126/...
