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Paired Ends

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

This week’s recap highlights a new Nextflow workflow for calculating polygenic scores with adjustments for genetic ancestry, a paper demonstrating that whole exome plus imputation on more samples is more powerful than whole genome sequencing for finding more trait associated variants, a new deep-learning-based splice site predictor that improves spliced alignments, a new method for accurate community profiling of large metagenomic datasets, and

PapersBiologieEnglisch
Veröffentlicht
Autor Stephen Turner

This week’s recap highlights a new method for gene-level alignment of single-cell trajectories, an R package for integrating gene and protein identifiers across biological sequence databases, characterization of SVs across humans and apes, universal prediction of cellular phenotypes, a method to quantify cell state heritability versus plasticity and infer cell state transition with single cell data, and a new AI-driven, natural language-oriented

R TILBiologieEnglisch
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Yesterday I wrote about base R vs. dplyr vs. duckdb for a simple summary analysis. In that post I simulated 100 million rows of a dataset and wrote to disk as CSV. I then benchmarked how long it took to read in and compute a simple grouped mean. One thing I didn’t do here was separate the time it took to read data into memory (for base R and dplyr) versus computing the actual summary.

R TILBiologieEnglisch
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TL;DR : For a very simple analysis (means by group on 100M rows), duckdb was 125x faster than base R, and 28x faster than readr+dplyr, without having to read data from disk into memory. The duckplyr package wraps DuckDB's analytical query processing techniques in a dplyr-compatible API. Learn more at duckdb.org/docs/api/r and duckplyr.tidyverse.org. I wanted to see for myself what the fuss was about with DuckDB.

PapersBiologieEnglisch
Veröffentlicht
Autor Stephen Turner

This week’s recap highlights a new multispecies codon optimization method, personalized pangenome references with vg, a commentary on the wild west of spike-in normalization, a new pipeline for comprehensive and scalable polygenic scoring across ancestrally diverse populations, a paper showing deep learning / transformer-based methods don’t outperform simple linear models for predicting gene expression after genetic perturbations, and finally, a

PapersBiologieEnglisch
Veröffentlicht
Autor Stephen Turner

This week’s recap highlights a Nextflow pipeline for eQTL detection, an end-to-end pipeline for spatial transcriptomics (visium) data analysis, a method for identification of perturbed cell types in single cell RNA-seq data, a method for guide assignment in single-cell CRISPR screens, a tool for on-target/off-target analysis of gene editing outcomes, and “digital microbes” for collaborative team science on emerging microbes.

R AIBiologieEnglisch
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Last month I published a paper and an R package for summarizing preprints from bioRxiv using a local LLM. I wrote about it here: Llama 3.2 was just released today (announcement). The biggest news is the addition of a multimodal vision model, but I was intrigued by the reasonably good performance of the tiny 3B text model. I used this as an excuse to update the biorecap R package.

TILBiologieEnglisch
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Cite: Stephen Turner. “Learning in Public.” Paired Ends (2024). DOI: https://doi.org/10.59350/xwgsf-nj906. I wrote my first public blog post in 2009. I started Getting Genetics Done to share what I was learning at the end of my PhD/postdoc through my first few years as faculty.