Somatic repeat expansion field is getting more interesting!! David Pellerin⁩ ⁦National Ataxia Foundation⁩ ⁦Ataxia Global Initiative⁩ ⁦FA Research Alliance⁩ #Sca27b ⁦Bill Nye⁩ “Somatic instability of the FGF14-SCA27B GAA•TTC repeat with expansion in cerebellum” academic.oup.com/brain/advance-…

How is our genome like a pizza? If you didn't think a de novo tandem repeat mutation could make you hungry, this is the post for you. news.cuanschutz.edu/dbmi/exploring… Thank you, Melinda, for the awesome write-up! CU Department of Biomedical Informatics (DBMI) #STRs #VNTRs #PlatinumPedigree

News of the day. Wow. SpaceX

Math at Halloween.

How do cells response to withdrawal of amino acids? It depends on the amino acid. ◼️Lysine withdrawal causes immediate cell-cycle stalling while the withdrawal of other amino acids allow for completion of additional cell cycles.

Meeting friends and colleagues in Perth. Towards solving neuromuscular diseases. ⁦ICNMD Congress⁩ ⁦@Gianina_Natoli⁩ Phillips Lamont, Jevin Parmar, Bernard Brais, Nigel Laing

Generative Haplotype Prediction Outperforms Statistical Methods for Small Variant Detection in NGS Data academic.oup.com/bioinformatics… 🧬🖥️ github.com/ARUP-NGS/jenev…

#ASHG2024 highlights - annual Lupski lab reunion, Jim’s Lifetime Achievement Award, non-stop snow, and great science!

We think that all memory is stored in the brain. But our study published today in Nature Communications shows that all cells—even kidney cells—can count, detect patterns, store memories, and do so similarly to brain cells. My first (co)corresponding author paper!🧵nature.com/articles/s4146…

Happy Thanksgiving!! 🍁

Superb video of the mitochondrial community in a single cell—hundreds of squiggly microorganisms sensing, processing, and signaling energy and information By @chillinwithpfn1 x.com/chillinwithpfn…

‼️We are almost ready to recruit patients w/ hereditary spastic paraplegia into the Spastic Paraplegia Centers of Excellence Research Network (SP-CERN) study @TXChildrens Please reach out if interested Spastic Paraplegia Foundation #HSPandPLS Darius Ebrahimi-Fakhari For more info: spcern.childrenshospital.org

Today in nature, we’re presenting GenCast: our new AI weather model which gives us the probabilities of different weather conditions up to 15 days ahead with state-of-the-art accuracy. ☁️⚡ Here’s how the technology works. 🧵goo.gle/49trAOv

I am honored to receive President Trump’s Donald J. Trump nomination to serve as the next Administrator of NASA. Having been fortunate to see our amazing planet from space, I am passionate about America leading the most incredible adventure in human history. On my last mission

Release of DeepVariant 1.8. Large speed improvement (~67% faster) via small model for easy sites. New Pangenome-aware option. Reduces error by ~30% for vg-mapped WGS ~10% for BWA WGS ~5% BWA exome. New config for custom model users, see release notes 1/3 github.com/google/deepvar…

Analysis of sequencing data of 320k individuals (75k cases and 245k controls) shows heterozygous carriers of cystic fibrosis mutations are protected from inflammatory bowel disease. The protection mechanism could be due to an altered gut mucosal barrier that resists penetration

Exactly how many protein-coding genes are there in the human genome? The truth is no one knows. The numbers change based on what database you use as reference. "More than 2,500 coding genes in the human reference gene set still have unsettled status" Maquedano et al. bioRxiv

Mapping the segmental duplications in the human genome using 170 long-read genome assemblies. SDs are among the toughest to read in the human genome, even with long read sequencing. Here the authors have identified SDs spread over 6% of the human genome. The authors predict that

Thank you Pankaj, for pushing this important topic in Florida! U of Miami Miller School of Medicine/Jackson Hospital would be the best place to establish this approach.

This is big.