BiologiaInglêsSubstack

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Bioinformatics, computational biology, and data science updates from the field. Occasional posts on programming.
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BiologiaInglês
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Autor Stephen Turner

I originally wrote and published this essay at The Connected Ideas Project, an excellent newsletter by my good friend and colleague Alexander Titus. If you’re not reading TCIP you’re missing out. After I finished my postdoc I was faculty in academia for eight years before moving to a consulting firm for five years, then joined a biotech startup two years ago.

PapersBiologiaInglês
Publicados
Autor Stephen Turner

This week’s recap highlights the new Datavzrd tool for interactive visualization and communication of tabular data (I’m genuinely really looking forward to trying this one), tracing the shared foundations of gene expression and chromatin structure, PISA for visualizing cis-regulatory rules in genomic data, fast protein structure searching using structure graph embeddings, and a review/perspective on intrinsically disordered regions as

BiologiaInglês
Publicados
Autor Stephen Turner

This is part 4 of a series on uv. Other posts in this series: uv, part 1: running scripts and tools uv, part 2: building and publishing packages uv, part 3: Python in R with reticulate I’ve never been a big fan of notebooks, and I’m not the only one. Out of order code execution, hidden state, difficulty diffing in version control, output bloat, etc.

BiologiaInglês
Publicados
Autor Stephen Turner

One of my previous employers was a Google Cloud partner, which gave me full and free access to all of Google Cloud’s certification programs, where I took the Professional Cloud Architect and Professional Data Engineer programs. It shouldn’t surprise anyone that with Google leaning hard into GenAI that they have new certification programs and learning paths, like this Generative AI Leader certification.

PapersBiologiaInglês
Publicados
Autor Stephen Turner

This week’s recap highlights PhyloSketch for interactively drawing and manipulating phylogenies, Uncalled4 for nanopore DNA and RNA modification detection, Severus for SV calling from long reads, CREsted for modeling synthetic cell type-specific enhancers, and a review on transformers and genome language models.

BiologiaInglês
Publicados
Autor Stephen Turner

There was a time in late 2023 to early 2024 when I and probably many others in the R community felt like R was falling woefully behind Python in tooling for development using AI and LLMs. This is no longer the case. The R community, and Posit in particular, have been on an absolute tear bringing new packages online to take advantage of all the capabilities that LLMs provide.

PapersBiologiaInglês
Publicados
Autor Stephen Turner

This week’s recap highlights polars-bio for fast and scalable and out-of-core operations on large genomic interval datasets, combining DNA and protein alignments to improve genome annotation with LiftOn, feature selection methods for scRNA-seq, STRkit for read-level genotyping of short tandem repeats using long reads and single-nucleotide variation, and nf-core/detaxizer for decontamination of human sequences in metagenomics data.

R TILBiologiaInglês
Publicados
Autor Stephen Turner

In the spirit of learning in public, I wanted an excuse to dive into Quarto to learn more about publishing formats beyond simple PDF and HTML documents. If you’re not familiar, Quarto (quarto.org) is the successor to RMarkdown, the next-generation scientific publishing system that works natively with Python, R, and OJS. If you already have RMarkdown you probably don’t have to do anything to it to get it to render with Quarto.

PapersBiologiaInglês
Publicados
Autor Stephen Turner

This week’s recap highlights compendium of human gene functions derived from evolutionary modelling from the Gene Ontology Consortium, an AI reasoning model applied to rare disease diagnosis, an agentic AI for scRNA-seq data exploration, and applying FAIR principles to scientific workflows.

R PythonBiologiaInglês
Publicados
Autor Stephen Turner

This is part 3 of a series on uv. Other posts in this series: uv, part 1: running scripts and tools uv, part 2: building and publishing packages This post Coming soon… Python and R I get the same question all the time from up and coming data scientists in training: “should I use Python or R?” My answer is always the same: it’s not Python versus R, it’s python

PapersBiologiaInglês
Publicados
Autor Stephen Turner

This week’s recap highlights new methods in genetic epidemiology, mostly centered around genomic data sharing and privacy-preserving methods: a short commentary on genomic data sharing highlighting how new challenges complicate large-scale data sharing practices, a privacy-preserving method for QTL mapping, privacy-preserving methods for federated biobank-scale GWAS analysis, a Nextflow pipeline for polygenic score QC and construction, and new