Karen Miga

Personalized pangenome preferences serve as crucial breakthroughs, furthering HPRC's mission to diversify genetic representation. @Nature highlights a more customized approach facilitating improvements in genetic diversity and reducing genotyping errors. nature.com/articles/s4159…

HPRC is building a reference that better reflects global genomic variation. We're well on our way to advancing assembly technology and tools to power next-gen genomic research!

📢 HPRC Release 2 is here! Now with phased genomes from 200+ individuals, a 5x increase from Release 1. Explore sequencing data, assemblies, annotations & alignments in our interactive data explorer ⬇️: humanpangenome.org/hprc-data-rele…

Very excited to share our work @MahlkeMegan in great collaboration with @NAltemose @khmiga Peter Campbell and Rachel O'Neill revealing that human centromeres are heterogenous and naturally evolve over prolonged proliferation. Check it out here biorxiv.org/content/10.110…

Meet our plenary speakers! We are pleased to announce the distinguished plenary speakers for HGM2025. Come and listen to valuable perspectives shared by distinguished experts and leaders! See you all at HGM2025! Register Now: hugo-hgm2025.org/registration/

Final call to submit your abstract for the presentation during HGM2025! Travel grants for students/post-docs and early-career researchers from LMIC countries are available. Please register and submit abstracts to be awarded. Submit Abstract: hugo-hgm2025.org/abstract-submi…

Meet our speakers! We are pleased to announce the distinguished speakers for HGM2025. See you all at HGM2025! Register Now: hugo-hgm2025.org/registration/ Submit Abstract: hugo-hgm2025.org/abstract-submi… Apply for Travel Grant: hugo-hgm2025.org/travel-grants/

Release of DeepVariant 1.8. Large speed improvement (~67% faster) via small model for easy sites. New Pangenome-aware option. Reduces error by ~30% for vg-mapped WGS ~10% for BWA WGS ~5% BWA exome. New config for custom model users, see release notes 1/3 github.com/google/deepvar…

Accurate genome assemblies are key for research. DeepPolisher uses Pacbio HiFi alignments to improve base-level accuracy, cutting errors by half and reducing indel errors by over 70%. ✍🏼@miramastoras @kishwarshafin @BenedictPaten @MobinAsri Here's how... biorxiv.org/content/10.110…

I am going on the faculty job market this year, so if your home department is starting a search, I'd love to hear about it. Thanks!

New preprint from our lab 🚨 We explored the variability in ribosomal DNA copy number and activity across humans of the world with @GertonJennifer @PaxtonKostos @AndresGuarahino @stevenjsolar @erikgarrison @aphillippy and others not on X biorxiv.org/content/10.110… 🧵

Genome sequencing is faster and cheaper than ever – but obstacles to broad adoption remain. Join @Google’s genomics lead @acarroll_ATG & @ucscgenomics’ @BenedictPaten for a live-streamed discussion on genomic analysis and equity: goo.gle/3ZmPyYO

Published today in @Nature, we describe an approach for single-molecule protein reading on @nanopore arrays. By utilizing ClpX unfoldase to ratchet proteins through a CsgG nanopore, we achieved single-amino-acid sensitivity. nature.com/articles/s4158…

A friendly reminder that today (August 1st) is the last day to register for the T2T-F2F! Hope you can join us (details below and reach out if you have any questions)

Our fast haplotagging paper is now published (nature.com/articles/s4146…) - see the earlier thread for a summary. Thanks to @kishwarshafin @AlexeyKolesni18 for leading the work and collaborators: @Johngorzynski, @gsneha261, @euanashley, @mitenjain, @khmiga, @BenedictPaten

🧬Want to learn more about the Telomere-to-Telomere project and the folks involved in the T2T Consortium before the T2T-F2F meeting on Sept 3-4? 👇Watch the presentation @khmiga gave at the Genome Technology Forum held @jacksonlab in collab w/ @genome_gov youtu.be/t4kGX373EEQ