
Avash Das, MBBS, PhD
@avash22
Molecular Genetic Pathology Fellow @MGBpathology via @BIDMCpath @harvardmed| PhD @lab_hobbs @UTSW via @SaumyaDas_lab|
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Today, @GoogleResearch announced DeepSomatic, a new machine learning model developed with our partners, including @ucscgenomics and @ChildrensMercy, that accurately identifies genetic variants in cancer cells — a critical step for delivering more precise treatments for patients.…
Big, beautiful trees!! SMART-PTA for whole-genome+transcriptome on thousand of single cells from the normal human esophagus 🤯 Massively scaling up the power of scWGS to build deep phylogenies and chart somatic evolution from birth throughout life. biorxiv.org/content/10.110…

Seeking concise molecular diagnostics information? We’re excited to announce that our Molecular in My Pocket™ cards have been newly updated for 2025! Print them out to have on hand in your workspace or download them to your phone for on-the-go access! amp.org/MIMP

Would you like a non-technical but practical introduction to #flowcytometry? youtu.be/JW_nUrJJ2Go?si… #hemepath #pathology #MedEd
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Intro to Flow Cytometry
At least 5% of people have cancer pathogenic gene variants via genome sequencing , a consistent finding among several large cohorts jamanetwork.com/journals/jama/…
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…
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