adamnovak.graphs.vg
Bioinformatics Programmer at @ucscgenomics.bsky.social working on #pangenomics. http://orcid.org/0000-0001-5828-047X
👤 Joined on 07 November 2024
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@adamnovak.bsky.social@adamnovak.bsky.social → @adamnovak.graphs.vgWe are big fans of #vg and obviously it was central to the work of this paper, hopefully that comes across! A shame we never quite managed to figure out getting SV allele frequency estimates from poolseq, but we are looking forward to genotyping SVs in individually sequenced samples in future!
Show Post🔥 Does switching to a pangenome reference actually improve your association study? We tested it, and the answer is yes, measurably. Our preprint is online now: "Pangenome-based human genome analysis improves trait association and genomic prediction": doi.org/10.64898/202...
Show PostEver receive a BAM aligned to “GRCh38” and realize that could mean several different references? We just released ref-solver, a tool that identifies the reference genome behind BAM/CRAM/FASTA files by comparing sequence dictionaries to known builds. 🔗 whatsmygenome.fulcrumgenomics.com Read more 👇
Show PostIn the end @imartayan.bsky.social suggested to find a line starting with @ that is followed by a line not starting with @, which seems relatively nice, especially since these 2 are only separated by the header, so there's not too much back-and-forth scanning of (long) sequences.
Show PostGoing through @samuelhorsfield.bsky.social presentation on pangenome graphs in comparative genomics, courtesy of @training.ebi.embl.org. Fascinating tidbit on history of alignment based sequence graph - it goes all the way back to 1989 (Hein), era of Apple IIs and IBM PS/2s. Great talk! 💻🧬🦠🧫
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