내가 좋아할 만한 콘텐츠
Spatial metabolic gradients in the liver and small intestine nature.com/articles/s4158…
SpliceVarDB: A comprehensive database of experimentally validated human splicing variants. @markjcowley & co-workers report in @AJHGNews #ASHG25 hubs.li/Q03Nybxh0
New Roche sequencer being tested for same-day genome interpretation in neonatal ICUs: "In the case of blood samples that arrived at the laboratory by 7 a.m., we obtained an interpreted report between 2 p.m. and 4:30 p.m. the same day." nejm.org/doi/full/10.10…
Systematic look at the functional and phenotypic effects of 'knockout' mutations in humans: "Proteomic and clinical impact of human knockouts in British South Asians" medrxiv.org/content/10.110…
A new world record for ultra rapid whole genome sequencing and interpretation for critically ill individuals @NEJM <4hrs nejm.org/doi/full/10.10…
Hepatoid carcinoma -VIDEO!!!!!
All you need to know about hepatoid carcinomas. An editorial and a new study uncover NTRK alterations in hepatoid carcinomas and adenocarcinomas with enteroblastic differentiation. 📖🔬 Don't miss our latest insights! 🚀🧬jcp.bmj.com/content/early/… jcp.bmj.com/content/early/…
Super excited re: first Shendure/Baker Lab collaboration & preprint on a multiplex sequencing-based strategy for screening de novo proteome editors in mammalian cells. Kudos to brilliant Chase Suiter & @Green_Ahn @UWproteindesign on the work! Preprint: biorxiv.org/content/10.110…
Nature Methods: Choose your human genome reference wisely nature.com/articles/s4159…
IN @NatureRevEndo Early-onset colorectal cancer as an emerging disease of metabolic dysregulation nature.com/articles/s4157… @yincaoScD @MarcusDGon and colleagues
Important findings from our lab on colorectal cancer therapy. George Eng shows that APC-mutant tumors maintain a precise WNT signaling threshold. Driving activation beyond this point creates a selective therapeutic window. Preprint: biorxiv.org/content/10.110…
#Throwback REVIEW | M Abu-Remaileh, @KivancBirsoy et al. Cellular and organismal function of choline metabolism nature.com/articles/s4225…
Complex structural variant visualization with SVTopo. #GeneticVariants #StructuralVariants #VariantsVisualization #BMCgenomics bmcgenomics.biomedcentral.com/articles/10.11…
Whole genome sequencing with AVITI and NovaSeq X Plus reveals comparable performance with contextual biases biorxiv.org/content/10.110… #biorxiv_genomic
T cell cholesterol transport links intestinal immune responses to dietary lipid absorption | Science science.org/doi/10.1126/sc…
Why are there intronic reads in your bulk RNA-seq data? You're not alone—it's common, and the reasons are more layered than you think. Let’s break it down. 🧵
Sequence-independent 6mA methyltransferases for epigenetic profiling and editing dlvr.it/TNZNsh
Ubiquitin-mediated mitophagy regulates the inheritance of mitochondrial DNA mutations | Science science.org/doi/10.1126/sc…
A genome-to-proteome map reveals how natural variants drive proteome diversity and shape fitness | Science science.org/doi/10.1126/sc…
🚨 The older the sperm, the more likely it is to cause autism Sequencing sperm using nearly error-free sequencing → measure % sperm carrying disease-causing mutations: 2% at age 30 → 4.5% at 70 Most were autism genes New paper in @Nature today 🧵
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