EichlerLab
@EichlerLab
Eichler Lab @UW Twitter @uwgenome #hhmi
Check out our grad student Lizzie Plender’s 1st first-author paper “Structural and genetic diversity in the secreted mucins MUC5AC and MUC5B” using LRS to depict human genetic diversity, detect selection signatures, and develop genotyping strategies. doi.org/10.1016/j.ajhg…

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…

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

Always fun to see the "band" get back together! Cheers to former lab members!
Next, pangenome-based segmental duplication discovery and phasing with the boss @EichlerLab w/ @DavisCompGen and @hajirasouliha
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
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
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
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
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…

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

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! :)
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!!

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
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-….
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

Congrats Dr. Michelle Noyes @mitch_does_sci! You conquered the academic battlefield w/ your brilliant defense: a masterclass in dedication, knowledge, & eloquence w/ your unique quirkiness. This milestone is a testament to your hard work & perseverance. To your future success!

Check out SVbyEye: A new visualization tool to characterize structural variation among whole-genome assemblies (biorxiv.org/content/10.110…)

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…

Exciting news! The ape T2T team just finished the full sequencing of chimpanzee, bonobo, gorilla, Bornean and Sumatran orangutan, and siamang genomes providing new evolutionary insights into previously uncharacterized regions. Check it out: biorxiv.org/content/10.110…

Eichler grad student Xavi Guitart’s 1st first-author paper "Independent expansion, selection and hypervariability of the TBC1D3 gene family in humans" has been accepted to @genomeresearch. Check it out: genome.cshlp.org/content/early/…. @xavster838

Congrats to Dr. Santhosh Girirajan being named head of Penn State Department of Biochemistry and Molecular Biology! Cheers! science.psu.edu/news/girirajan… @girirajan16 @girirajanlab
Congratulations to Santhosh Girirajan, professor of biochemistry and molecular biology, for being named head of the Department of Biochemistry and Molecular Biology! Read more about him at buff.ly/4d95n9e #PennStateBMB
Always great catching up with former lab members! @hajirasouliha @calkan_cs
Catching up after an inspiring keynote talk @EichlerLab @calkan_cs #ISMB2024