Happy to share that our Michigan #CASP15 team ended up placing second in Regular Targets, first in Multimeric Targets, and first in Inter-domain prediction (1/3)

Really excited to be part of this with Alan Boyle and Mike McConnell! Our part of the project will be focused on exploring somatic mosaicism in single cells as well as targeted capture of specific types of variation in bulk tissue using long read nanopore sequencing.

📢New in Human Genetics and Genomics Advances! Alan Boyle & colleagues explore the challenges posed when screening for de novo variants in complex phenotypes bit.ly/43f86ZE

US citizens or permanent residents from an under-represented group! High school thru postdoc/faculty. You can contact any NIH-funded researcher you admire & suggest applying for this supplement to join their lab! Many, like me, are happy to host! grants.nih.gov/grants/guide/p…

Our protamine paper is finally out! nature.com/articles/s4159…

Want to join a fun, supportive, and intellectually curious lab that explores the interface between fundamental mRNA biology and human neurological disease? If so, the Todd lab might be a good fit. Check out our posting below or visit our website!

Current methods lack the scalability to validate full-length plasmid sequences. In this interview learn how nanopore technology provides a fully scalable solution for full-length plasmid validation, from the portable MinION to the high-throughput GridION. bit.ly/3QOiMeM

Current tools can only partially validate plasmid sequences due to their inability to resolve complex regions. In this interview, Mel Englund discussed how nanopore sequencing can span entire plasmids allowing for accurate validation of complete plasmids: bit.ly/3KSYj4V

I am beyond excited to share our new paper on massively parallel reporter assays on schizophrenia-associated variants. This is in collaboration with Jason Stein, Sri Kosuri, Michael Love, Jose Davila Velderrain, Brad Ruzicka, Alan Boyle. 🧵 follows.

Our preprint is out! We hacked the Oxford Nanopore sequencer to read amino acids and PTMs along protein strands. This opens up the possibility for barcode sequencing at the protein level for highly multiplexed assays, PTM monitoring, and protein identification! biorxiv.org/content/10.110…

New Alan Boyle and Todd Lab @UM collaboration is now up on medRxiv 🥳 we used targeted long read sequencing and HMMSTR to successfully identify and genotype known or suspected large tandem repeat expansions at many loci in patient derived samples. medrxiv.org/content/10.110…

Systematic investigation of allelic regulatory activity of schizophrenia-associated common variants hubs.li/Q02v7f3S0 Hyejung Won Jason Stein Sri Kosuri Michael Love @_josedavila Brad Ruzicka Alan Boyle Up-and-coming genomics research from Cell Genomics #neurogenomics

Our first study in a new repeat expansion disorder: CANVAS. Connor Maltby used patient iPSNs to define how this non-reference AAGGG repeat impacts neuronal function. He finds a novel role for the repeat in disease that is independent of RFC1 function science.org/doi/10.1126/sc…

Excited to share the white paper for the IGVF Consortium, supported by National Human Genome Research Institute Deciphering the impact of genomic variation on function rdcu.be/dSZdm

New paper from my postdoc work at Michigan Research is now out in Science Advances 🎉 very proud to share the culmination of nearly 4 years of hard work with a fantastic group of colleagues and collaborators. A 🧵 of what we found out about RFC1/CANVAS 👉 science.org/doi/10.1126/sc…

MNI is actively recruiting for 𝙨𝙚𝙫𝙚𝙧𝙖𝙡 𝗳𝗮𝗰𝘂𝗹𝘁𝘆 𝗽𝗼𝘀𝗶𝘁𝗶𝗼𝗻𝘀, seeking the best and brightest in #neuroscience to fill these roles. Please 💛 and r/t this to help us reach some great candidates! 〽️🧠 More info: michmed.org/GqG8z

Our ChromBPNet preprint out! Huge congrats to Anusri Pampari! This was quite a slog for both of us but we r very proud of this one! It is a long read but worth it IMHO. Methods r in the supp. materials. Link in the next tweet. Bluetorial coming soon .. 1/

1/ I am beyond thrilled to share our new paper in Cell! We explored the regulatory principles underlying pleiotropy in psychiatric disorders. cell.com/cell/abstract/…