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Bioinformatics, computational biology, and data science updates from the field. Occasional posts on programming.
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This week’s recap highlights analysis of human de novo mutation rates from a four-generation pedigree reference, how LLMs internalize scientific literature and citation practices, the py_ped_sim forward pedigree and genetic simulator for complex family pedigree analysis, and a review on predicting gene expression from DNA sequence using deep learning models like Enformer and Borzoi.

BiologieEnglisch
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I recently wrote a piece about leaving academia for biotech. I left academia for industry in 2019. I spent four years at a consulting firm before joining Colossal Biosciences. This week I’m returning to the University of Virginia School of Data Science as a tenured associate professor and dean of research. The transition from academia to industry can be tricky, but it’s also increasingly common.

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This week’s recap highlights nanoMDBG for metagenome assembly from nanopore reads, the SCassist AI-based workflow for single-cell analysis, discovery and characterization of GxE and GxG effects in a vertebrate model, the PIGEON framework for estimating gene-environment interaction for polygenic traits, and long-read alignment with multi-level parallelism.

AIBiologieEnglisch
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I’ve written a lot about Ollama here. Ollama lets you run open-weight models like Llama, Gemma, Mistral, Qwen, DeepSeek, etc. on your own computer. You don’t have to pay for a frontier model like ChatGPT, Claude, or Gemini, and all the inputs and outputs stay on your computer, minimizing any privacy and security concerns. Until recently Ollama was a command-line only tool.