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!
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EichlerLab
77 posts
EichlerLab
@EichlerLab
Eichler Lab @UW Twitter @uwgenome #hhmi
Katılım Nisan 2022
133 Takip Edilen1.5K Takipçiler
We assembled the acrocentric short arms of 23 samples from a 4-generation pedigree, revealing unique mutational and recombination patterns from these highly repetitive regions that are usually excluded in the genetic analysis. Preprint: biorxiv.org/content/10.648…
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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: medrxiv.org/content/10.110… @EichlerEE @uwgenome @KiranGarimella
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Thank you, Dr. Danny Miller, for hosting, and fantastic job, Dr. @fkmastrorosa!
brotmanbaty.org/news/long-read…
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Recent PhD grad Dishuck unveiled NPIP structural variation & evolutionary dynamics across 169 human haplotypes—revealing brain-expressed paralogs, selective sweeps & neofunctionalization.
🎧 @BasebyBasePod Ep. 129: Dives into NPIP’s role in our genome: basebybase.castos.com/episodes/struc…
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🧬 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
YouTube
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Check out our postdoc's updated preprint!
F. Kumara Mastrorosa@fkmastrorosa
We updated our preprint describing chr21 centromere genetics/epigenetics in families with Down syndrome and general population! We found transgenerational methylation changes in a subset of families and that centromere size asymmetry is exclusive to T21! biorxiv.org/content/10.110…
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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.
biorxiv.org/content/10.110…
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The Eichler lab's new, revamped website is now live! Learn more about the lab's research and scientists @ eichler.gs.washington.edu
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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! @EichlerEE @uwgenome @HHMINEWS
UW Medicine Newsroom@uwmnewsroom
Advanced genomic analysis of 4 generation family offers new knowledge about genetic mutations & their transmission, including inherited variants & those that arise anew @Nature @uwgenome @EichlerLab @UWMedicine @UUtah @PacBio tinyurl.com/w5wydzck
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Check it out! Telomere-to-telomere ape genome assemblies reveal new biology & insights into evolution: rdcu.be/eg47u Nature News: nature.com/articles/d4158… Nature Podcast: nature.com/articles/d4158… @DongahnYoo @EichlerEE @uwgenome @HHMINEWS
UW Medicine Newsroom@uwmnewsroom
Polished genomes of 6 ape species - siamang, Borneo & Sumatran orangutan, gorilla, chimp & bonobo - have been assembled & comparatively analyzed. Findings shed new light on human & ape evolution @Nature @Eichlerlab @uwgenome @UWMedicine tinyurl.com/38kpvmcx
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Check out this ASHG podcast episode with our grad student Lizzie Plender! She talks about how she got into genetics and why mucins are the "coolest" genes out there:
ashg.org/publications-n…
podcasts.apple.com/us/podcast/tra…
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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
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EichlerLab retweetledi
I'm thrilled to share our latest research on the human chromosome 2 fusion, addressing a basic question: "What makes us uniquely human?". Our work is now live on BioRxiv! (biorxiv.org/content/10.110…). @EichlerLab We’d love to hear your thoughts and feedback! :)
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@hcmefford @AmEpilepsySoc Congrats & cheers Heather from the Eichler lab!
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Thank you @AmEpilepsySoc #AES2024! I am honored and humbled to be recognized for our gene 🧬 discovery work in #epilepsy 🧠 #RareDisease!
American Epilepsy Society@AmEpilepsySoc
Congratulations to Dr. Heather C. Mefford, MD, PhD, recipient of the 2024 Basic Science Research Award!
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Congrats Dr. Philip Dishuck @genesofplenty on your successful "Structural variation and expression of segmentally duplicated human genes" dissertation defense. Your determination and resilience have paid off! To your future success! Cheers!!
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Eichler lab grad student Xavi Guitart (@xavster838)'s first author paper "Independent expansion, selection, and hypervariability of the TBC1D3 gene family in humans" featured in a GR special issue! @EichlerEE @uwgenome @HHMINEWS
Genome Research@genomeresearch
SPECIAL ISSUE! This month @genomeresearch publishes a diverse collection of research and review articles in a special issue highlighting advances in long-read sequencing applications in biology and medicine. tinyurl.com/Genome-Res-34-….
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We're hiring! Join our team working with cutting-edge genomic technologies. Check out our new long-read sequencing tech position @ UW in Seattle: eichlerlab.gs.washington.edu/position.html #Genomics #UW #PacBio
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