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jakobheinz.bsky.social

@jakobheinz.bsky.social
40 followers 57 following 10 posts

Ph.D student @ Harvard BIG

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jakobheinz.bsky.social @jakobheinz.bsky.social · 01/10/2026
I’m excited to share our new preprint introducing HipHap, a tool for assigning long reads to haplotype-resolved diploid reference assemblies! With Max Marin, Matthew Meyerson, and @lh3lh3.bsky.social Preprint: www.biorxiv.org/content/10.6... 🧵 1/6
biorxiv.org
HipHap: Haplotype Assignment and Confidence Scoring for Diploid Reference Genomes
Diploid genome assemblies are now routinely available, but most read aligners were designed for haploid references, which have long been the gold standard. When reads are aligned to a diploid assembly...
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Reposted by @jakobheinz.bsky.social
Vikram Shivakumar @vikramshivakumar.bsky.social · 15/07/2026
1/ Excited to share the newest tool in the pangenome MUMiverse: Shredtools! Shredtools enables a user to navigate the pangenome coordinate system with multi-MUMs. More in the thread🧵 Code: github.com/vikshiv/shredtools Interactive tool for querying HPRC assemblies: vikshiv.github.io/shredtools
biorxiv.org
Navigating the pangenome coordinate system with Shredtools
Existing notions of pangenome coordinates rely on hard-to-compute multiple sequence alignments. On the other hand, pangenome-wide exact unique matches (multi-MUMs) can be computed efficiently, and rep...
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Floris Barthel @florisbarthel.bsky.social · 17/05/2026
The human genome's most variable and clinically important regions (centromeres, telomeres, and acrocentric short arms) have been hardest to study at scale. Thrilled to share KaryoScope, our new preprint that brings them within reach. 🧵 www.biorxiv.org/content/10.6...
KaryoScope karyotype of the HG002 diploid assembly. All 22 autosomes plus X and Y, each shown as paired haplotypes (h1, h2). Each chromosome has a full-length track colored by chromosome of origin, a centromere zoom panel showing satellite composition, and a subtelomere zoom panel. Legends map chromosomes, satellite families, and subtelomeric features to colors.
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jakobheinz.bsky.social @jakobheinz.bsky.social · 24/02/2026
Our paper on foldback artifacts in long-read sequencing is now published in BMC Genomics! We introduce Breakinator to flag foldback and chimeric artifacts across library types, sequencers, and chemistries. Paper: link.springer.com/article/10.1... With Matthew Meyerson and @lh3lh3.bsky.social
link.springer.com
Detecting foldback artifacts in long-reads - BMC Genomics
Long-read sequencing data is useful for detecting large and complex structural variations; however, technical artifacts can lead to false structural variant calls. In our analyses, we became aware of ...
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Reposted by @jakobheinz.bsky.social
Vikram Shivakumar @vikramshivakumar.bsky.social · 21/07/2025
If you’re in Liverpool, stop by my poster A217 at ISMB/EECB 2025, and chat about all things pangenomes, MUMs, and alignment (and the Beatles or Oasis-mania)
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jakobheinz.bsky.social @jakobheinz.bsky.social · 21/07/2025
Excited to share our new preprint on detecting foldback artifacts in long reads with my advisors Matthew Meyerson and @lh3lh3.bsky.social ! Stop by poster C-180 on Wednesday at ISMB/ECCB2025 to learn more and chat!
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Reposted by @jakobheinz.bsky.social
Arun Das @arun-das.bsky.social · 15/05/2025
Our pre-print on investigating variation in South Asian genomes is now out! Thank you to @mikeschatz.bsky.social, @rajivmccoy.bsky.social and @aabiddanda.bsky.social for all their work on this. 🧵 A thread on the key results and takeaways from our work:
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Reposted by @jakobheinz.bsky.social
Kuan-Hao Chao @kuanhaochao.bsky.social · 03/03/2025
Friends, LiftOn is now published in @genomeresearch.bsky.social! LiftOn maps genes across genomes using a protein-centric, homology-based approach with both DNA & protein alignments @stevensalzberg.bsky.social Mihaela Pertea, Jakob Heinz, Alaina Shumate, Celine Hoh, Alan Mao doi.org/10.1101/gr.2...
doi.org
Combining DNA and protein alignments to improve genome annotation with LiftOn
An international, peer-reviewed genome sciences journal featuring outstanding original research that offers novel insights into the biology of all organisms
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