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brent pedersen Profile
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
Don't wanna be here? Send us removal request.
@brent_p
brent pedersen
4 months
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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@brent_p
brent pedersen
4 months
RT @nomad421: This is very cool work and I'm happy to see it published. Vcfexpress by @brent_p and @aaronquinlan allows building (essentia….
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@brent_p
brent pedersen
4 months
RT @Theholisticpsyc: A present, emotionally healthy father is one of the most underrated forms of mental healthcare.
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@brent_p
brent pedersen
5 months
new release of vcfexpress with some performance improvements for common uses: also adding to list of examples, for example filtering on posterior genotype prob:
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@brent_p
brent pedersen
5 months
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: if you have a use-case and want some pointers, open an issue.
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@brent_p
brent pedersen
5 months
already got a PR accepted to fix this. and then additional help to update my code. 👍.
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@brent_p
brent pedersen
5 months
In addition to my deficiencies in rust, I often hit stuff like this in noodles: so noodles seems to have gaps, *and* it requires greater facility with rust than rust-htslib, which I tend to use.
@brent_p
brent pedersen
5 months
I am looking for a mentor for the rust programming language. My latest issue is with trait bounds ( but I have a few things I generally hit. I can compensate with $$ or interesting problems. :). Please share with relevant people and feel free to DM.
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@brent_p
brent pedersen
5 months
RT @jiayi_pirate: We reproduced DeepSeek R1-Zero in the CountDown game, and it just works . Through RL, the 3B base LM develops self-verifi….
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@brent_p
brent pedersen
5 months
vcfexpress is a command-line tool built in rust that lets users apply lua expressions to modify or filter a vcf from the command-line.new release with better docs and examples
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@brent_p
brent pedersen
5 months
I am looking for a mentor for the rust programming language. My latest issue is with trait bounds ( but I have a few things I generally hit. I can compensate with $$ or interesting problems. :). Please share with relevant people and feel free to DM.
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@brent_p
brent pedersen
8 months
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.
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@brent_p
brent pedersen
8 months
RT @kezcleal: Here's a small package that integrates htslib with your Zig build, making it easier to work on genomics projects using #ZigLa….
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@brent_p
brent pedersen
8 months
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 .
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@brent_p
brent pedersen
8 months
RT @nomad421: Rust execution engine + Lua expressions, God what a great combination! This looks awesome. Congrats @brent_p and @aaronquinla….
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@brent_p
brent pedersen
8 months
Vcfexpress: flexible, rapid user-expressions to filter and format VCFs .work with @aaronquinlan . lua expressions and a sandbox feature so it can be run safely.
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@brent_p
brent pedersen
9 months
RT @sedlazeck: @brent_p Thanks @brent_p this is the paper but there are other extensions done by @GenomeInABottle .
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@brent_p
brent pedersen
9 months
don't use hg38.fa as-is. checkout the references 😜 here: rendered the ipynb (not mine) here: in short, use: GRCh38_GIABv3_no_alt_analysis_set_maskedGRC_decoys_MAP2K3_KMT2C_KCNJ18.fasta.gz. other updates on the best hg38 reference?.
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@brent_p
brent pedersen
9 months
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 ++
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@brent_p
brent pedersen
9 months
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.
@brent_p
brent pedersen
9 months
new tool: vcfexpress let's user apply lua expressions to filter/modify a VCF and optionally to write templated output: it's fast. feedback appreciated. Work with @aaronquinlan.
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@brent_p
brent pedersen
9 months
new tool: vcfexpress let's user apply lua expressions to filter/modify a VCF and optionally to write templated output: it's fast. feedback appreciated. Work with @aaronquinlan.
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