
brent pedersen
@brent_p
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computational biologist. Building humane tools for large-scale genomics and rare-disease. Contact me if you have genomics/bioinformatics contracting work.
Corvallis, Oregon, USA
Joined October 2008
erf generated by deepseek (left) and gpt-4o (right) are nearly identical. even have same comments and formula reference. only difference I see is parens in sign definition:
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This is very cool work and I'm happy to see it published. Vcfexpress by @brent_p and @aaronquinlan allows building (essentially) arbitrary VCF filters expressed in lua code with parsing & eval powered by rust! https://t.co/Lbki2dLHOl
academic.oup.com
AbstractMotivation. Variant call format (VCF) files are the standard output format for various software tools that identify genetic variation from DNA sequ
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A present, emotionally healthy father is one of the most underrated forms of mental healthcare.
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new release of vcfexpress with some performance improvements for common uses: https://t.co/DBUkErzfHI also adding to list of examples, for example filtering on posterior genotype prob:
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vcfexpress applies simple user expressions variants in a VCF. it can replace one-off python scripts to manipulate VCFs, likely with better performance. we'd like to collect use-cases here: https://t.co/D4o6h0zrGM if you have a use-case and want some pointers, open an issue
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already got a PR accepted to fix this. and then additional help to update my code. ๐
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In addition to my deficiencies in rust, I often hit stuff like this in noodles: https://t.co/v2w3sFqZhN so noodles seems to have gaps, *and* it requires greater facility with rust than rust-htslib, which I tend to use.
github.com
Hi, I'd like to use csi (or tabix) to get data and I can get the IndexedRecord trait items, but I'd like to downcast to the Record so I can get to fields other than those in IndexedRecord. ...
I am looking for a mentor for the rust programming language. My latest issue is with trait bounds ( https://t.co/wUIjeFOfJ8) but I have a few things I generally hit. I can compensate with $$ or interesting problems. :) Please share with relevant people and feel free to DM.
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We reproduced DeepSeek R1-Zero in the CountDown game, and it just works Through RL, the 3B base LM develops self-verification and search abilities all on its own You can experience the Ahah moment yourself for < $30 Code: https://t.co/B2IsN1PrXV Here's what we learned ๐งต
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vcfexpress is a command-line tool built in rust that lets users apply lua expressions to modify or filter a vcf from the command-line https://t.co/jOeg9dDAp8 new release with better docs https://t.co/L1sa9fBsIL and examples
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I am looking for a mentor for the rust programming language. My latest issue is with trait bounds ( https://t.co/wUIjeFOfJ8) but I have a few things I generally hit. I can compensate with $$ or interesting problems. :) Please share with relevant people and feel free to DM.
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with @JKunisaki from @aaronquinlan lab, have been dusting off fraguracy, which evaluates sequencing error rates using the portion of bases from paired end reads that overlap. new release adds, among other niceties, tracking for distance to homopolymer. https://t.co/FDDSQOoyzC
github.com
This release adds tracking for distance of an error to a homopolymer (as defined by a user-regex). It also optionally writes a denominator.bed file to see how many total overlapping read bases were...
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Here's a small package that integrates htslib with your Zig build, making it easier to work on genomics projects using #ZigLang. Check it out ๐ https://t.co/t0bj8VIOkt
#Genomics #Bioinformatics
github.com
htslib for the zig build system. Contribute to kcleal/zights development by creating an account on GitHub.
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echtvar still (echt waar) annotates variants extremely rapidly with large population databases where most variants are encoded into 32 bits (and are then compressed with stream v-byte). latest release fixes a small bug https://t.co/3SlD8ndJWu
github.com
bump stream-vbyte for performance annotating fix #43 where output vcf would have Number=, unless number was specified in config.json Get Started To get started, download the static linux binary he...
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Rust execution engine + Lua expressions, God what a great combination! This looks awesome. Congrats @brent_p and @aaronquinlan !
Vcfexpress: flexible, rapid user-expressions to filter and format VCFs https://t.co/aBiGYQkXnC
#biorxiv_bioinfo
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Vcfexpress: flexible, rapid user-expressions to filter and format VCFs https://t.co/Acg20PMZ41 work with @aaronquinlan lua expressions and a sandbox feature so it can be run safely.
biorxiv.org
Motivation Variant Call Format (VCF) files are the standard output format for various software tools that identify genetic variation from DNA sequencing experiments. Downstream analyses require the...
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@brent_p Thanks @brent_p this is the paper but there are other extensions done by @GenomeInABottle
https://t.co/wiXG2gVVYS
genomebiology.biomedcentral.com
The current version of the human reference genome, GRCh38, contains a number of errors including 1.2 Mbp of falsely duplicated and 8.04 Mbp of collapsed regions. These errors impact the variant...
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don't use hg38.fa as-is. checkout the references ๐ here: https://t.co/UBhkn6zjDx rendered the ipynb (not mine) here: https://t.co/Zv6J1d6XAy in short, use: GRCh38_GIABv3_no_alt_analysis_set_maskedGRC_decoys_MAP2K3_KMT2C_KCNJ18.fasta.gz other updates on the best hg38 reference?
gist.github.com
GitHub Gist: instantly share code, notes, and snippets.
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This looks like a nicely done comparison of pathogenicity prediction tools. Even stratifies by date the (truth-set) variant was created to hint at leakage/training on truth. BayesDel metamethod does quite well. Scores recalibrated by conservation ++
biorxiv.org
Background Variant Effect Prediction (VEP) tools are essential for determining the potential pathogenicity of genetic variants, aiding clinical diagnostics and genetic counseling. However, their...
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vcfexpress is fast in benchmarks (re-run from vembrane paper). it's very customizable; simple user lua code to parse CSQ fields (to find HIGH impact variants, for example) is still quite fast. https://t.co/IDUi14nKyc
new tool: vcfexpress let's user apply lua expressions to filter/modify a VCF and optionally to write templated output: https://t.co/jOeg9dDAp8 it's fast. feedback appreciated. Work with @aaronquinlan
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new tool: vcfexpress let's user apply lua expressions to filter/modify a VCF and optionally to write templated output: https://t.co/jOeg9dDAp8 it's fast. feedback appreciated. Work with @aaronquinlan
github.com
expressions on VCFs. Contribute to brentp/vcfexpress development by creating an account on GitHub.
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