Front Line Genomics

Registration is open for our latest webinar "Enhancing variant interpretation: Obtaining answers from a vast universe of data." You'll hear from Rolph Pfundt, Clinical Molecular Geneticist, Radboud University Medical Centre who will share insights into his variant interpretation workflow. He will also highlight how using more effective variant interpretation software enables the identification of complex variants with greater ease and precision. Attend this webinar to learn more about: - Resolving splice-site variants using splicing scores and exonic splicing enhancer binding site predictors in a visual interface.   - Conducting familial variant analysis (FVA) for prioritization of germline variants, by excluding those that do not follow Mendelian inheritance patterns.  - Utilizing trusted databases, predictors, publications and guidelines, such as the ACMG criteria, for effective genomics interpretation.  - Enhancing interpretation through a software that offers comprehensive annotations and visualization of breakpoints and coverage across different file types in a full genome browser.  - The significance of a guideline-driven approach to variant nomenclature for consistent analysis and reporting. If you can't make the webinar then you can catch it on-demand by signing up in advance: https://hubs.la/Q02F_lTn0 #variantinterpretation #genomics #variantanalysis

Liquid biopsies are being heralded as “the future of non-invasive cancer diagnosis and treatment”. But what’s stopping their clinical implementation? Find out the answer to this, and more, as we dive into the latest research, trials and advances pushing the field forwards in our free Liquid Biopsy 2024 Report. This report includes: 💉 A helpful guide to liquid biopsy biomarker analysis, including the latest products, equipment and commercially available assays. 💉 Exclusive interviews and insights from 17 expert contributors within the field, including Klaus Pantel, Lauren Leiman and Charles Swanton. 💉 Exciting updates and results from major clinical trials and programmes, including the eagerly awaited NHS-Galleri trial. 💉 A comprehensive overview of the applications of liquid biopsy, including early cancer detection, MRD analysis and the diagnosis of neurological disorders. 💉 Insights into how liquid biopsy is currently changing oncological care within the NHS and beyond, and a glimpse into the future of this transformative technique. We’ve gathered expert intelligence from these leaders within the liquid biopsy field, below we have provided a sneak peak of an interview with Aadel Chaudhuri, MD PhD How do we figure out which patients will benefit from cancer therapies? Answering this question, Dr. Chaudhuri and colleagues are adopting liquid biopsy approaches to risk stratify oligometastatic NSCLC patients before radiotherapy treatment. In this interview, we speak with Aadel to uncover the details of his ctDNA study and its implications on the future of liquid biopsy for NSCLC patients. To get the full report, follow this link https://hubs.la/Q02ktKtF0 #liquidbiopsy #cancerresearch #biomarkers

Are you curious about what's been going on in the genomics world - and beyond - in the last seven days? Here's a sneak peek of what you can find in today's Week in Brief. 🧬Llama-derived nanobodies have shown potential for the treatment of HIV, with the results of a recent study showing that these molecules can effectively target and neutralise HIV-1 strains. 🧬Researchers have developed a new method of non-invasive prenatal genetic testing to identify maternal copy number variants associated with Duchenne muscular dystrophy. 🧬According to a new study, around 2% of the population develops autoantibodies against type 1 interferons – a key component of the immune system – during their life. This leaves these individuals more susceptible to viral infection. Check out the full article here: https://lnkd.in/eTvZDSew

🩸 Have You Read The Liquid Biopsy 2024 Intelligence Report? 🩸 It’s the quickest way to find the latest clinical advancements, scientific breakthroughs and cutting-edge assays It contains 7 in-depth chapters exploring areas ranging from novel biomarkers to major liquid biopsy clinical trials, to the current state and future applications of this revolutionary technology in oncological and neurological care. Designed to be a free resource for the liquid biopsy community, this report features the latest and most exciting findings this last year had to offer. Best of all, this resource is FREE to download from our website: https://hubs.la/Q02ktKtF0 This resource was built with the help of contributors from across the liquid biopsy community. Below we have included a highlight from Mike Hubank, who kindly took part in an interview with Ashleigh Davey about the Marsden360 assay. Click through below to read the full interview. The report contains much more along the same lines! We hope you find this report a useful and interesting window into the rapidly developing world of liquid biopsy! #liquidbiopsy #cancer #cancerresearch

In just a few hours, we’ll be hearing from Dr. Rolph Pfundt and Dr. Swati Tomar in the new 'Enhancing Variant Interpretation' Webinar! Click more to see what will be covered 🤔 Using the experiences of Rolph and Swati, alongside case studies (including disease-associated variants in Charcot-Marie-Tooth and Breast Cancer), this webinar will show: 💫 How to resolve splice-site variants using scores and predictors in a visual interface. 💫 Ways to conduct familial variant analysis to prioritize germline variants 💫 Best practices for using trusted databases, predictors, publications and guidelines (including ACMG criteria) 💫 The significance of a guideline-driven approach to variant nomenclature 💫 A variant interpretation software that offers comprehensive annotations and visualization of breakpoints, and coverage across different file types in a full genome browser. The webinar starts at 3pm (BST) and will feature plenty of time for Q&A and interaction with the speakers 💬 🗨 To register, please click the link here: https://hubs.la/Q02F_lTn0 #genomics #mutation #variant

𝐖𝐞𝐛𝐢𝐧𝐚𝐫 𝟐: 𝐄𝐧𝐡𝐚𝐧𝐜𝐢𝐧𝐠 𝐘𝐨𝐮𝐫 𝐌𝐮𝐥𝐭𝐢-𝐎𝐦𝐢𝐜 𝐖𝐨𝐫𝐤𝐟𝐥𝐨𝐰𝐬 𝐰𝐢𝐭𝐡 𝐃𝐚𝐭𝐚 𝐈𝐧𝐭𝐞𝐠𝐫𝐚𝐭𝐢𝐨𝐧 𝘛𝘶𝘦𝘴𝘥𝘢𝘺 16𝘵𝘩 𝘑𝘶𝘭𝘺 2024 𝘢𝘵 3𝘱𝘮 𝘉𝘚𝘛 / 4𝘱𝘮 𝘊𝘌𝘛/ 10𝘢𝘮 𝘌𝘋𝘛 Webinar 2 will look at some unique examples of multi-omic integration, including reactome, cytoprofiling, and pathway-based multi-omics. These methods allow you to integrate multi-omics data in ways that can have a stronger impact in research and translational settings. Speakers: 🔸 Eliot Ragueneau, Senior Software Engineer, EMBL-EBI Eliot will begin with a short introduction to Reactome, followed by a brief explanation of the principles behind the different analysis methods. There will also be a demo of Reactome GSA in a multi-comics context. 🔸 Abbey Cutchin, Associate Director, Strategic Marketing, Element Biosciences Abbey will take us through how Element can support your research with their flexible, upgradable systems all with uncompromising performance and affordability. Take this opportunity to Shift Your Science with the full potential of AVITI24 CytoProfiling. 🔸 Cecilia Wieder, Research Associate, Imperial College London Cecilia will introduce the PathIntegrate package and showcase its use on COPD and COVID-19 multi-omics data (transcriptomics, proteomics, and metabolomics) 🔸 Stathis Megas, Post-Doc Fellow, Wellcome Sanger Institute This talk will present a new method, EmptyDropsMultiome for discriminating real cells from background, which will be shown to outperform CellRanger ARC on real datasets You can register for this webinar by following this link: https://hubs.la/Q02FlHr90 

Are you looking for better workflows for genomic variant annotation and visualisation? Or would you like to learn more about variant annotation and interpretation on a genomic scale? Either way, you should seriously consider attending next week’s ‘Enhancing Variant Interpretation’ webinar! Dr. Rolph Pfundt will be centre stage, sharing his variant interpretation workflow and the software that he uses to perform this with ease and precision. Swati Tomar, Ph.D. will be joining him, showcasing the software options that SOPHiA GENETICS offer to supercharge variant interpretation, specifically the Alamut™ Visual Plus Software! There will be a lot to learn, including, resolving splice-site variants, conducting FVA, using variant nomenclature and using the ACMG criteria for interpreting sequence variants. Case studies will also help guide the way, including detecting compound heterozygous variants in Charcot-Marie-Tooth Disease, and Alu insertions in breast cancer. If you would like to learn more about these topics, you can register for this free webinar by using the following link: https://hubs.la/Q02F_lTn0. It begins at 3pm (BST) on Wednesday 17th July #genomics #mutation #variant

For the first webinar in the Multi-Omics Unleashed series, we have three speakers and three unique stories for how multi-omics methods have provided a precision medicine approach for research into specific diseases. See the full details below    𝗪𝗲𝗯𝗶𝗻𝗮𝗿 𝟭: 𝗠𝘂𝗹𝘁𝗶-𝗢𝗺𝗶𝗰𝘀 𝗶𝗻 𝗣𝗿𝗲𝗰𝗶𝘀𝗶𝗼𝗻 𝗠𝗲𝗱𝗶𝗰𝗶𝗻𝗲 – 𝗖𝘂𝘁𝘁𝗶𝗻𝗴-𝗘𝗱𝗴𝗲 𝗘𝘅𝗮𝗺𝗽𝗹𝗲𝘀 𝘛𝘶𝘦𝘴𝘥𝘢𝘺 9𝘵𝘩 𝘑𝘶𝘭𝘺 2024 𝘢𝘵 3𝘱𝘮 𝘉𝘚𝘛 / 4𝘱𝘮 𝘊𝘌𝘛/ 10𝘢𝘮 𝘌𝘋𝘛   Webinar 1 begins this series with some cutting-edge instances in which multi-omics is elevating precision medicine approaches, including specific examples of studies in breast cancer and autoimmune disease.     𝗦𝗽𝗲𝗮𝗸𝗲𝗿𝘀:    🔸  Zhengyan 'George' Kan, Director of Computational Biology, Pfizer George kicks off proceedings with his talk on how multi-omics was used to discover novel molecular features associated with poor prognosis and molecular mechanisms that could be targeted to overcome resistance in metastatic breast cancer     🔸 Andrada Tomoni, Software Product Manager, biomodal    Andrada will be presenting second, covering the new biomodal technology that allows for the capture of complete genetic and DNA methylation data in the 6-base genome.     🔸 Fan Zhang, PhD, Assistant Professor, University of Colorado    Fan finishes the webinar covering her lab’s work developing computational intelligence methods to disentangle pathogenic mechanisms underlying autoimmune diseases, ultimately ushering translational medicine.    Through three distinct applications and methodologies in multi-omics, Multi-Omics Unleashed Webinar 1 will show you how precision medicine is being impacted today by multi-omics.    You can register for this webinar by following this link: https://hubs.ly/Q02DB3Rr0  

Happy Monday everybody! We’re back with Week in Brief, full of the latest and greatest genomics news. Top stories this week include: 🧬 Scientists have created a new mouse model of alpha thalassemia using lipid nanoparticle technology. Lentiviral gene transfer was then seen to rescue the phenotype, pointing towards a potential therapy for humans. 🧬 A combination of genomics and anonymised travel data from mobile phones can help to track pathogen spread and the evolution of antimicrobial resistance. This is according to a new study, which analysed the spread of bacteria responsible for pneumonia and meningitis. 🧬 Researchers have used saturation genome editing to map all possible changes to the tumour-suppressor gene, VHL. This work could help in predicting patient risk and developing personalised treatment strategies. Check out the full article here: https://lnkd.in/eWDpXr-S

This week on FoG Circle, our members discussed direct-to-consumer genetic testing services (including 23andme and Ancestry DNA) that have been putting the power of DNA testing into the hands of anyone who wants it – for the right price. Here are the highlights of our discussion: ◼ A security breach in February exposed data from nearly 7 million 23andMe users, raising concerns about the security and reliability of these services. One member noted, “In countries where genetic data could affect health insurance, this could potentially change someone’s life for the worse.” ◼ In the UK, the NHS must re-verify pathogenic variants found in these tests due to past unreliability, and in 2017, a dispute was published between 23andMe and the FDA on whether regulation of their tests was needed. As one member observed, “I’ve seen it recommended on Reddit for carrier screening, but it’s really not suitable for that. For example, for BRCA2 it doesn’t include all the genetic variants that cause breast cancer, but people seem to think it does.”  ◼ In March, DNA My Dog mistakenly identified a journalist as 40% Alaskan Malamute, 35% Shar-Pei, and 25% Labrador after she submitted her own DNA. This incident underscores growing public scepticism about the accuracy of some companies' tests. A member summed it up: “I would not trust the medical ‘advice’ they supply!” ◼ But it’s not all negative - other members felt more optimistic about these services, with one commenting, “Personally, I’d be curious to learn more about my family history using something like AncestryDNA, but I haven’t done it yet.”    Would you try a direct-to-consumer genetic testing service? If you have, how was your experience?    Join the conversation on FoG Circle, a free online community for professionals in genomics and related fields. Sign up here >>> https://lnkd.in/dqr4wjxc