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Mashup Score: 111Ultrasensitive plasma-based monitoring of tumor burden using machine-learning-guided signal enrichment - 1 year(s) ago
Nature Medicine – Detection of circulating tumor DNA using MRD-EDGE, a machine-learning-guided single-nucleotide variant and copy-number variant detection platform for signal enrichment, enables…
Source: www.nature.comCategories: General Medicine News, Hem/OncsTweet
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Mashup Score: 111Ultrasensitive plasma-based monitoring of tumor burden using machine-learning-guided signal enrichment - 1 year(s) ago
Nature Medicine – Detection of circulating tumor DNA using MRD-EDGE, a machine-learning-guided single-nucleotide variant and copy-number variant detection platform for signal enrichment, enables…
Source: www.nature.comCategories: General Medicine News, Hem/OncsTweet
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Mashup Score: 273Genotype-to-phenotype mapping of somatic clonal mosaicism via single-cell co-capture of DNA mutations and mRNA transcripts - 1 year(s) ago
Somatic mosaicism is a hallmark of malignancy that is also pervasively observed in human physiological aging, with clonal expansions of cells harboring mutations in recurrently mutated driver genes. Bulk sequencing of tissue microdissection captures mutation frequencies, but cannot distinguish which mutations co-occur in the same clones to reconstruct clonal architectures, nor phenotypically profile clonal populations to delineate how driver mutations impact cellular behavior. To address these challenges, we developed single-cell Genotype-to-Phenotype sequencing (scG2P) for high-throughput, highly-multiplexed, single-cell joint capture of recurrently mutated genomic regions and mRNA phenotypic markers in cells or nuclei isolated from solid tissues. We applied scG2P to aged esophagus samples from five individuals with high alcohol and tobacco exposure and observed a clonal landscape dominated by a large number of clones with a single driver event, but only rare clones with two driver mu
Source: www.biorxiv.orgCategories: General Medicine News, Oncologists1Tweet
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Mashup Score: 283Single-cell genotype-phenotype mapping identifies therapeutic vulnerabilities in VEXAS syndrome - 1 year(s) ago
Somatic evolution leads to the emergence of clonal diversity across tissues with broad implications for human health. A striking example of somatic evolution is the VEXAS (Vacuoles E1 enzyme X-linked Autoinflammatory Somatic) syndrome, caused by somatic UBA1 mutations in hematopoietic stem cells (HSCs), inducing treatment-refractory, systemic inflammation. However, the mechanisms that lead to survival and expansion of mutant HSCs are unknown, limiting the development of effective therapies. The lack of animal or cellular models of UBA1-mutant HSCs has hindered such mechanistic understanding, mandating analysis of primary human VEXAS samples, which harbor admixtures of wild-type and UBA1-mutant HSCs. To address these challenges, we applied single-cell multi-omics to comprehensively define mutant UBA1-induced transcriptome, chromatin accessibility and signaling pathway alterations in VEXAS patients, allowing for the direct comparison of mutant versus wild-type cells within the same envir
Source: www.biorxiv.orgCategories: General Medicine News, Oncologists1Tweet
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Mashup Score: 47
Nature – The JAK2V617F mutation leads to epigenetic rewiring in a cell-intrinsic and cell-type-specific manner, influencing inflammation states and differentiation trajectories in patients with…
Source: link.springer.comCategories: General Medicine News, Hem/OncsTweet
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Mashup Score: 18How to Be Less Harsh with Yourself (and Others): Ram Dass on the Spiritual Lessons of Trees - 2 year(s) ago
A simple perspective shift that reorients the roots of being.
Source: www.themarginalian.orgCategories: General Medicine News, Hem/OncsTweet
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Mashup Score: 4Israel screens unseen Hamas bodycam footage of attack - 2 year(s) ago
Journalists were shown 43 minutes of raw footage from the attack but most of it will not be made public.
Source: www.bbc.co.ukCategories: General Medicine News, Hem/OncsTweet
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Mashup Score: 30Single-cell multi-omics defines the cell-type-specific impact of splicing aberrations in human hematopoietic clonal outgrowths - 2 year(s) ago
RNA splicing factors are recurrently mutated in clonal blood disorders, but the impact of dysregulated splicing in hematopoiesis remains unclear. To o…
Source: www.sciencedirect.comCategories: Hem/Oncs, Latest HeadlinesTweet
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Mashup Score: 4Sign the Petition - 2 year(s) ago
Eliminate ABIMs MOC requirement
Source: www.change.orgCategories: Latest Headlines, Oncologists1Tweet
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Mashup Score: 36NIH launches $140 million effort to investigate genetic variation in normal human cells and tissues - 2 year(s) ago
Common Fund Program will accelerate research on human development, aging, and disease.
Categories: Hem/Oncs, Latest HeadlinesTweet
"Did you know that you don't need targeted panels for ultra-sensitive MRD?" 🥳 Down right ebullient to share our latest 🥳@NatureMedicine ! MRD-EDGE leverages advanced #ML for #WGS #ctDNA detection across clinical context https://t.co/drJasWVwoE #DeepLearning 🪡 https://t.co/mmMIDNQNbE