Biyolojik BilimlerİngilizceSubstack

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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.

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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.

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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.

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I liked Steve Krouse’s essay, “Vibe code is legacy code.” It helped crystalize some half-baked thoughts I have on vibe coding. Here’s an excerpt.Subscribe now Maintainability and vibe are inversely correlated I’ve been using GitHub copilot and chatbots for code for years, and I’ve written about them a lot here.

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This week’s recap highlights Variant-EFFECTS for rewriting regulatory DNA to dissect and reprogram gene expression, zero-shot evaluation revealing the limitations of single-cell foundation models, EcoWeaver for large-scale prediction of gene functional associations from coevolutionary signals, and how assemblies of long-read metagenomes suffer from diverse errors.

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I covered Autocycler (paper, code, docs) in last week’s recap: From the abstract: Here’s a schematic of the workflow: And some benchmarks:Subscribe now Demo I wanted to try this tool out myself. I followed the demo dataset described in the Autocycler docs, which contains ONT reads from a few E. coli plasmids, and mostly used the same code provided in the docs to run Autocycler on this data.