Check out new AoU collaboration paper: Long-read sequencing of 1027 All of Us participants self-identified as African American discovers new structural variant disease associations: www.medrxiv.org/content/10.1... @uwgenome.bsky.social

Thank you Dr. Danny Miller @danrdanny.bsky.social for hosting, and fantastic job Dr. Mastrorosa @fkma.bsky.social!
@uwgenome.bsky.social

brotmanbaty.org/news/long-re...

Recent PhD grad Dishuck unveiled NPIP structural variation & evolutionary dynamics across 169 human haplotypes—revealing brain-expressed paralogs & more: pubmed.ncbi.nlm.nih.gov/40848717
🎧 Base by Base Ep 129: Dives into NPIP’s role in our genome: basebybase.castos.com/episodes/str... @hhmi.org

🧬 How fast do humans mutate?
Our groundbreaking study tracks DNA changes across 4 generations to reveal the pace of human evolution revealing insights into our genetic legacy. Watch now 👉 youtu.be/6TTCZdZd4Y4
#Genetics #Evolution #ScienceVideo #Nature @hhmi.org @uwgenome.bsky.social

Using >130 human & 12 primate haplotypes, we reconstruct the chromosome 22q11.2 evolution to identify haplotype structures linked to deletions or inversions, explaining the lower prevalence of 22q11.2 deletion syndrome in individuals of African descent. @hhmi.org @uwgenome.bsky.social

The Eichler lab's new, revamped website is now live! Learn more about the lab's research and scientists @ eichler.gs.washington.edu/

Our Nature paper (rdcu.be/ei1NM) deep sequencing a 4-generation, 28-member family using multiple sequencing technologies to study transmission of all classes of genetic variation is out! @uwgenome.bsky.social @hhmi.org @pacbio.bsky.social @utah.edu