🧬New from @eichlerlab.bsky.social 📄Complete chromosome 21 centromere sequencing of families with Down syndrome 🧑🤝🧑 @glennislogsdon.bsky.social @fkma.bsky.social & co
Complete chromosome 21 centromere sequencing of families with Down syndrome
This article describes the genetic and epigenetic landscapes of chromosome 21 centromeres in families with trisomy 21 and the general population. It reveals an extreme size asymmetry of the two matern...
cell.com
Trivedi @mihirisback.bsky.social et al. assemble & characterize 8 lemur species centromeres showing they do not contain α-satellites & have a different motif for each genus, pointing to their imperative role in lemur radiation. doi.org/10.64898/202... @uwgenome.bsky.social @hhmi-science.bsky.social
Noyes et al. apply long-read sequencing to autism families identifying increased numbers of germline & postzygotic mutations. Repetitive sequences like segmental duplications are hypermutable, especially in early embryo. @uwgenome.bsky.social @hhmi-science.bsky.social www.nature.com/articles/s41...
Long-read sequencing of families reveals increased germline and postzygotic mutation rates in repetitive DNA - Nature Communications
Short‑read sequencing misses many early and repeat‑driven mutations. Here, the authors show that long‑read sequencing in autism families increases detection of germline and postzygotic mutations and r...
nature.com
Real et al. find human-specific NOTCH2NL duplications linked to cortical expansion. Analysis of 82 long-read ape & human genomes shows independent duplications, major structural variation, & gene conversion, with rapid gene & regulatory divergence. @uwgenome.bsky.social www.cell.com/cell-genomic...
Genetic diversity and regulatory features of human-specific NOTCH2NL duplications
Human-specific NOTCH2NL segmental duplications are implicated in brain cortical expansion. Analysis of 82 long-read assemblies from apes and humans shows independent duplications. Human-specific NOTCH...
cell.com
Porubsky et al. resolve 65 structurally diverse haplotype structures for the 22q11.2 deletion syndrome region. Deletion risk differs depending on structure; individuals of African ancestry are enriched for inverted repeats predisposing to inversion. @uwgenome.bsky.social doi.org/10.1038/s414...
Using long-read genome sequencing of unsolved autism families & population controls, postdoc Sui @suiyang0122.bsky.social et al. identify pathogenic & candidate variants missed by short-read sequencing & the value of phased pangenomes to enrich in rare variants. pmc.ncbi.nlm.nih.gov/articles/PMC...
Congrats Xavi Guitart on a successful thesis defense! Your hard work and perseverance have paid off. Your incredible determination throughout your graduate journey will aid in your next scientific endeavors as well! Cheers! @uwgenome.bsky.social
We assembled acrocentric short arms of 23 samples from a 4-generation pedigree, revealing unique mutational & recombination patterns from these highly repetitive regions usually excluded in genetic analysis. Preprint: www.biorxiv.org/content/10.6... @uwgenome.bsky.social @hhmi-science.bsky.social
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
Population-scale Long-read Sequencing in the All of Us Research Program
The All of Us Research Program (AoU) is a national biobank seeking to enroll one million individuals in the United States to link genomic and biomedical data, including short- and long-read whole-geno...
medrxiv.org
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
How quickly do humans mutate? Four generations help answer the question
YouTube video by nature video
youtu.be
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
Human de novo mutation rates from a four-generation pedigree reference
Nature - Analysis of more than 95% of each diploid human genome of a four-generation, twenty-eight-member family using five complementary short-read and long-read sequencing technologies provides a...
rdcu.be
UW Medicine Newsroom@uwmnewsroom.bsky.social · last yr.Advanced genomic analysis of 4 generation family offers new knowledge about genetic mutations & their transmission, including inherited variants & those that arise anew @nature.com @uwgenome.bsky.social @eichlerlab.bsky.social @uwmedicine.bsky.social @utah.edu @pacbio.bsky.social
