Really happy to see our paper on the population history of Eastern Arabia finally published! cell.com/cell-genomics/…

Want to learn more about the tricks and tips for generating ONT Ultra-long DNA? The T2T Consortium and UCSC SeqTech Center are hosting a Technology-focused Webinar next Thursday with a group of experts. Register today: bit.ly/3PFTa2f Adam Phillippy

I'm absolutely thrilled to share that our work on human centromere variation and evolution has been published in nature! We completely sequenced all centromeres from a second human genome & compared them to those from the first complete human genome, uncovering new sequences,

Two new chapters from my open-access textbook in human population genetics are now online: - Population structure: I. Ancestry estimation - Population structure: II. More about admixture web.stanford.edu/group/pritchar…

Thrilled to announce the largest long-read based SV resource on open samples (1kGP) to date. Highlights include a pangenome augmentation pipeline, sequence resolution of 74k insertions, fine-scale SV classification and evidence for recurrent SV formation. Great team effort:

Our review paper on "Genome assembly in the telomere-to-telomere era" published online in Nature Reviews Genetics. It amazes me how much assembly has progressed in the past four years – often ~100X improvement in contiguity and base accuracy and with haplotypes and hard regions resolved!

We finally uploaded a preprint on Locityper—targeted genotyper for complex genes, on which Tobias Marschall and I worked for almost two years! doi.org/10.1101/2024.0…

Heading home from #bog24 on the overday flight (sorry to miss the last session) and here are some thoughts from this Biology of Genomes

Now on bioRxiv! Deep sequencing of a four-generation, 28-member family (CEPH 1463) using multiple sequencing technologies provides an important resource to study transmission of all classes of genetic variation. biorxiv.org/content/10.110…

The pseudoautosomal region (PAR) is a critical area on the Y chromosome that swaps genetic information with the X chromosome. Page Lab reaffirms the location of PAR and offers a refined understanding of where crossover events occur. wi.mit.edu/news/establish…

I'm delighted to share that our study on the amylase locus is now published in Science Magazine! A big thanks to all the authors: Charikleia Karageorgiou, Kwondo Kim, Petar Pajic, Kendra Scheer, @christinerbeck, Ann-Marie Torregrossa, Charles Lee, Omer Gokcumen. science.org/doi/10.1126/sc…

II'm excited to finally share our study on the mutational landscape and selection dynamics in sperm, now live on medRxiv: medrxiv.org/content/10.110…. We explored how positive selection impacts mutation rates, especially with age. Here’s a quick thread on our findings! 🧵👇

Also in this issue, a #Comment by Joris Veltman & @FTuttelmann: Why geneticists should care about male infertility go.nature.com/47Aeheo

We sequenced Himalayan populations to understand how they formed and adapted to their unique environment. Our findings are now posted on bioRxiv for comments and suggestions 🧬🏔️ #Genetics #Himalayas #Tibet biorxiv.org/content/10.110…

Our new Nature Genetics paper on human segmental duplications (SDs) provides a pangenome perspective of SDs, new potential protein-coding genes, and greater complexity in human variation with implications for disease and evolution. rdcu.be/d5AD9

We made the cover of Genome Research! Check out our latest paper on DDX3X and DDX3Y - the first X-Y gene pair with cross regulatory capabilities (genome.cshlp.org/content/35/1/2…).

Looking forward to my keynote talk 'Mommy's baby, daddy's mayby' at the (online) genetic genealogical symposium! Booking is now open 👇

🧬Join our #ReproductionMS seminar with Dr. Pille Hallast The Jackson Laboratory on "Sequencing of the human Y-chromosome – what have we learned and what’s next?" next Wednesday, 19 March, 12pm CET. DM for Zoom details.

Very much looking forward to my visit to Münster!