It turns out that BASEPAIR scoring is well-suited for both 1) evaluating variants that are represented differently and 2) providing a non-binary measure of accuracy. Both of these benefits make a big difference when evaluating variants in homopolymer or tandem repeat regions! 3/N

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Our article introducing Aardvark for variant benchmarking is now published in Genome Biology! “Aardvark: sifting through differences in a mound of variants” DOI: doi.org/10.1186/s130... GitHub: github.com/PacificBiosc... Follow along for some highlights… 1/N

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Very proud of @einsteinmededu.bsky.social MSTP student Chynna Smith, just awarded a 2026-2027 ASHG @geneticssociety.bsky.social Scholarship. Chynna is a superstar in the making, working on a polycreodism model of osteoporosis. www.ashg.org/membership/a... Congratulations Chynna!

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1/ We’ve been working on making it easier to fine-tune AlphaGenome on new RNA-seq samples, with a focus on one of my favourite regulatory layers: splicing! Blog post: genomicsxai.github.io/blogs/2026-0...

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HPRC2: A human pangenome reference with near-complete coverage of common genetic variation https://www.biorxiv.org/content/10.64898/2026.07.21.739710v1

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