SOPHiA GENETICS’ Post

https://lnkd.in/eAJ9S7bX Now available through 2BScientific Ltd. Cellecta, Inc. ’s CloneTracker XP Libraries incorporate barcodes into the untranslated region (UTR) of an RNA transcript. These ready-to-use expressed barcode libraries enable convenient labelling of millions of individual cells with unique barcodes that can be detected in both the genomic DNA and expressed RNA fractions. A barcode in the 5′-UTR is compatible with SMART-based cDNA synthesis. A recent study used the CloneTracker library in a TRADITIOM (Tracking Adaptation, Dormancy and awakening with multiomics) experiment as part of the recent paper “Long-term Multimodal Recording Reveals Epigenetic Adaptation Routes in Dormant Breast Cancer Cells” by D. Rosano et al . https://lnkd.in/eVQ9tTMy The use of MCF7 barcoded cells was able to create “carbon copy” cell cultures to elucidate possible escape mechanisms from endocrine therapies. Cells with the same genetic information can be monitored, enabling deeper insights into the epigenetic mechanisms of dormancy and adaption of cells to endocrine therapies. #labelling #cells #hereforyou

Revolutionizing Breast Cancer Diagnosis: The Power of Precision Medicine Precision medicine revolutionizes the early diagnosis of breast cancer by tailoring medical approaches to an individual's unique genetic, molecular, and lifestyle characteristics. This cutting-edge paradigm represents a fundamental shift in healthcare, offering personalized strategies for detection and treatment, ultimately saving lives and improving outcomes.   Precision medicine leverages advanced genomic and proteomic technologies to analyze a person's unique genetic makeup and identify genetic mutations, biomarkers, and gene expressions associated with breast cancer. Ultimately improving patient outcomes and contributing to a future where breast cancer is more effectively managed and lives are saved." #precisionmedicine #multiomics #breastcancerawarenessmonth #breastcancerawareness #oncogenomics

NOW ONLINE Editorial on the recent study by Abderaouf Hamza & colleagues on understanding the molecular biology of #AnalSquamousCellCarcinoma FREE ACCESS ➡️ https://lnkd.in/eJDXRYHW Hamza et al. ➡️ https://lnkd.in/eKG2hzNC Institut Curie To develop personalized therapies for anal squamous cell carcinoma (ASCC), researchers need to learn more about the genomics of the disease. Here, the authors examined pathogenic variants in 571 cancer-related genes identified in surgical samples collected form patients with ASCC. They found that more than 40% of patients carried mutations known to be targetable in other cancers. In patients with HPV-positive tumors, pathogenic variants in KMT2C and PIK3CA were associated with worse overall survival. These results support genomic profiling to identify patients for clinical trials of targeted therapies.

🔬 PCR-The Powerhouse of Genetic Research🔬 Polymerase Chain Reaction (PCR) is a fundamental technique in molecular biology, serving as the cornerstone for genetic research. By amplifying specific DNA sequences, PCR allows scientists to zero in on targeted genes with remarkable precision, even from the smallest DNA samples. But what makes PCR truly transformative is its role in identifying genetic markers linked to diseases. For instance, in cancer research, PCR is pivotal in isolating genes that may harbor mutations or variations. Once these genes are identified, they can undergo rigorous statistical analysis to determine their association with specific tumors. Researching brain tumors, PCR was instrumental in uncovering single nucleotide polymorphisms (SNPs) that could potentially drive tumor development. By linking these genetic variations to specific tumor types, we can better understand the underlying mechanisms of cancer and open new avenues for personalized medicine. The intersection of PCR and statistical analysis is where the future of precision oncology lies, providing us with the tools to decode the genetic blueprint of cancer and tailor treatments to individual patients. #GeneticResearch #PCR #CancerResearch #PrecisionMedicine #BiomedicalScience #Oncology #MolecularBiology #Genetics #PersonalizedMedicine

Genome variation common to cancer is too complex for low coverage whole genome sequencing (#WGS). #CMA also not fit for SV. Complex rearrangements as well as highly repetitive regions of the genome present additional challenges for short-and long-read sequencing technologies. Optical Genome Mapping (#OGM) detects structural variations in an unbiased manner and at much higher sensitivities than sequencing-based technologies, and routinely at 5% variant allele fraction. Extreme genomic rearrangements are hallmarks of cancer

Please join the IMAG/MSM WG on Multiscale Modeling and Viral Pandemics and GLIMPRINT, Thursday, August 8th at 3 pm Eastern Daylight Time (EDT) for: Bishal Paudel, University of Virginia Systems Insights into Molecular Variability and Divergent Cancer Phenotypes Understanding how heterogeneity arises in cells of similar origin within a uniform environment is a major challenge in biology. In the context of cancer, identifying the processes that lead to tumor heterogeneity is crucial, as it significantly impacts tumor progression and treatment resistance. In this presentation, I will explore the mechanistic details behind the origins and consequences of heterogeneity in cancer using experimental, bioinformatics, and computational methods. In the first example, I will discuss the emergence of a multicellular phenotype in premalignant breast cancers, resulting from a cross-inhibitory feedback between oncogenic receptors and nucleocytoplasmic transport regulators. In the second example, I will present an integrative framework that combines multimodal measurements, machine learning, and systems pharmacology to identify two clinically relevant metabolic phenotypes in acute myeloid leukemia. Overall, this presentation will demonstrate how an integrative, systems biology approach provides insights into the early stages of tumorigenesis and the clinically relevant heterogeneity in cancers. For more information see: https://systemsbioe.org/ Register at: https://lnkd.in/env6WVM #cancer, #medicine, #resiatnce, #therapy, #heterogeneity,, #mathematicalbiology, #computationalbiology, #signaling, #Spatialpatterning,  #IMAGMSM, #MathematicalBiology, #SystemsBiology,, #Dynamics, #AI, #ML, #Omics, #Leukemia, #SystemsBiology, #MachineLearning, #Biology, #Medicine, #Technology,, #AML, #MSMViral, #tumorigenesis, #IUB, #Glimprint, #Biocomplexity, #Transport, #DataAnalysis, #DataScience, #Methodologies, #Biotechnology, #UVa, #UniversityofVirginia, #BishalPaudel, #QSP, #SystemsPharmacology, #DrugDiscovery

#WorldCancerDay2024. 16 teams at InstitutCochin work in the field of #cancer. A focus on fundamental research on genomic stability that remains an important issue: Julie Chaumeil’s team investigates how the 3D conformation and organization of the genome with the cell nucleus functionally contributes to the regulation of gene expression and V(D)J recombination during normal and pathogenic hematopoiesis. https://lnkd.in/eyKzqPZQ The main objective of Benoit Miotto’s team is to obtain a better understanding of the mechanisms that regulate DNA replication and the maintenance of its integrity in mammalian cells. It is also studying the effects that a disruption of the replication process may have in the emergence of certain pathologies, such as cancer. https://lnkd.in/ehPMzrPd The team led by Bernard Lopez is interested in various stresses (radiation, chemical contaminants, free radicals) which damage DNA, as well as in the subtle balances orchestrating DNA repair and providing protection against genetic instability. https://lnkd.in/eZcscTt3 Inserm Université Paris Cité CNRS - Centre national de la recherche scientifique

In this month's Citrus County Chronicle feature, Dr. Sunil Gandhi, medical oncologist & hematologist at Florida Cancer Specialists & Research Institute, dives deeper into the topic of molecular (genetic) testing. This type of testing, called next-generation sequencing (NGS), is available at our state-of-the-art, in-house FCS Pathology Laboratory. NGS looks at individual genes to identify any changes (or mutations). This ground-breaking scientific capability is transforming cancer treatment, allowing oncologists to choose specific drugs that target the exact mutation affecting someone's genetic makeup. To learn more about how experts like Dr. Gandhi utilize the power of NGS testing, click the link to read the full article: https://bit.ly/3vztOfS.

Here's our Friday precision medicine news roundup! 🔬 "Genomics Reveal Unknown Mutation-Promoting Agents at Global Sites" Published in Nature, this study used genetic sequencing of human kidney cancers to identify environmental mutagens associated with geographic locations, offering new insights into cancer mutagenesis. https://lnkd.in/g5__xiFE 🔬 "Germline Mutations of Breast Cancer Susceptibility Genes through Expanded Genetic Analysis in Unselected Colombian Patients" This study, published in Human Genomics in June 2024, investigates the prevalence of germline mutations in breast cancer susceptibility genes among Colombian patients, highlighting the genetic variations that contribute to breast cancer risk. https://lnkd.in/gi9e_7Tx 🔬 "Drug-Microbiota Interactions: An Emerging Priority for Precision Medicine" This paper, published in Nature in June 2024, explores the complex interactions between drugs and the human microbiota. Understanding these interactions is crucial for optimizing drug efficacy and safety, highlighting the importance of considering microbiota in precision medicine approaches. https://lnkd.in/g8TBCDYa Nature Magazine #PrecisionMedicine #Genomics #HealthcareInnovation #PersonalizedMedicine 

Are ribosomal RNAs (rRNAs) upregulated in all cancers? Perhaps NO...! I am glad to share that my first research publication addresses this area of research, contributing to how these genes function and differ among cancers. link: https://lnkd.in/gGEkfW3V