Empire Genomics’ Post

SVs are a key part of genomic variation that shapes evolution.While SNVs contribute to 0.1% variation between humans, SVs contribute 1.5%.People can carry many structural variants in their genomes, where DNA segments are duplicated, deleted, inverted, or changed. Structural variants result in protein truncating mutations and more likely to affect gene expression compared to SNVs. SVs are more likely to to associate with a genome-wide association study( GWAS) signal.

June is Brain and Headache Awareness Month. To raise awareness, we have a throwback paper that emphasizes the significance of full-length PacBio sequencing in neuronal research. 🧠 The paper discusses the full-length transcript sequencing of the human and mouse cerebral cortex. Isoform-level transcripts were crucial in discovering widespread transcriptional diversity across the cortex and identifying novel gene isoforms associated with human brain disease. Explore more in the paper here: https://bit.ly/3VDB0lj #BrainMonth #PacBio #RNAIsoforms

HAVE A LOOK AT OUR THIRD GENERATION FISH PROBES! #FISH #probes, or #Fluorescence #In #Situ #Hybridization #probes, are tools used in molecular biology to detect specific DNA or RNA sequences on #chromosomes. They bind specifically to target sequences and are visualized using #fluorescent #labels, allowing researchers to locate and quantify these sequences. This technology is widely used in #genetics #research, #cancer #diagnostics, #prenatal #screening, and #cytogenetics.

Getting more domain expertise in Pharma R&D, Genomics, Molecule Development .. Genetics and Next Generation DNA Sequencing for Bioinformatics; Tools , Accelerators to analyze NGS data, Personalized cancer therapy, disease research Quality Checks, Improving Quality with FastQC1,QC2, Improving quality with Trimmomatic #bioinformatics #nextgenerationsequencing #genetics #DNASequencingtechnology # #personalizedcancertherapy #diseaseresearch

Discover how spatial biology is revolutionizing our understanding of cellular interactions and disease mechanisms. From visualizing molecules in 3D to mapping gene regulation in tumor microenvironments, spatial omics opens new doors for diagnostics and therapies. Learn more about the latest techniques in spatial transcriptomics, proteomics, and more. Dive into the details in our latest blog post: https://lnkd.in/dfmqUNmi #SpatialBiology #Research #Innovation #Diagnostics

Solvuu’s Director of Genomics, Raj Sasidharan, is in Salt Lake City, Utah attending the annual meeting of the Association for Molecular Pathology (AMP). One area of focus is the importance and utilization of reference materials (RM) in diagnostics assay development with a special day dedicated to this topic at AMP2023. The 𝘈𝘔𝘗 𝘙𝘦𝘧𝘦𝘳𝘦𝘯𝘤𝘦 𝘔𝘢𝘵𝘦𝘳𝘪𝘢𝘭 𝘍𝘰𝘳𝘶𝘮 had talks from leading experts on pre-analytical challenges for ctDNA measurements, development of reference materials for pan fusion gene testing, 𝘪𝘯 𝘴𝘪𝘭𝘪𝘤𝘰 RMs for infectious disease applications, pharmacogenetics applications (RMs for CYP3A4 and CYP3A5 from the GeT-RM Collaborative Project), quality control materials for microbiome research, updates from the GIAB project, the use of MS2 phage-like particles for RMs, and the Somatic Reference Sample (SRS) initiative. Birgit Funke, our consultant, spoke about 𝘪𝘯 𝘴𝘪𝘭𝘪𝘤𝘰 approaches to close the gap in available RMs for common genetic tests. If you are at AMP2023 and interested in implementing 𝘪𝘯 𝘴𝘪𝘭𝘪𝘤𝘰 RM for your assay or have clinical bioinformatics needs, please get in touch with Raj and let’s discuss how we could help you. #AMP2023 #Solvuu #ReferenceMaterial #ClinicalBioinformatics #Diagnostics #insilicodata #Oncology #NGS #AssayValidation

𝗜𝗻 𝗮 𝗴𝗿𝗼𝘂𝗻𝗱𝗯𝗿𝗲𝗮𝗸𝗶𝗻𝗴 𝘀𝘁𝘂𝗱𝘆 𝗽𝘂𝗯𝗹𝗶𝘀𝗵𝗲𝗱 𝗶𝗻 𝗡𝗮𝘁𝘂𝗿𝗲, researchers have made a significant stride in understanding the aging process. Scientists witnessed remarkable outcomes by introducing the naked mole-rat Has2 gene into mice. The genetically modified mice exhibited increased hyaluronic acid levels, leading to a 4.4% extended lifespan, enhanced health span, and a reduced incidence of cancer. Notably, these mice showcased improved motor performance, stronger bones, enhanced gut health, and a diminished inflammatory signature. Additionally, their transcriptomic profile closely resembled that of young mice, shedding light on potential anti-aging mechanisms. Delve into the article to explore the transformative implications of this research! https://lnkd.in/exsSFJnv . . #AgingResearch #ScientificBreakthrough #NakedMoleRatStudy #ScientificDiscovery #LifeScience #LifeSciences #Longevity #LongevityResearch #ScientificMethod #NatureMagazine #NatureScience

🌟 Excited to share that I recently had the opportunity to present a fascinating research paper titled "ATF6-Mediated Unfolded Protein Response Facilitates Adeno-associated Virus 2 (AAV2) Transduction by Releasing the Supression of the AAV Receptor on Endoplasmic Reticulum Stress" as part of an assessment. 📝 The paper delved into the intricate mechanisms underlying the efficient transduction of AAV2, shedding light on how the unfolded protein response (UPR), specifically mediated by ATF6, plays a crucial role in releasing the suppression of the AAV receptor during endoplasmic reticulum stress. 🧬 Through my presentation, I highlighted the groundbreaking insights provided by the study, particularly in understanding the molecular interactions between AAV2 and host cells, and the potential implications for gene therapy and viral vector design. 💡 It was truly an enriching experience to delve into the cutting-edge research at the intersection of virology and cellular biology. I'm grateful for the opportunity to expand my knowledge and participate in the ongoing scientific dialogue. 🌐 Looking forward to continuing my journey of discovery and sharing more insights with my network! Stay tuned for more updates. 🔬 #JournalClubPresentation #Biotechnology #Virology #GeneTherapy #GraduateStudent

I’m glad to share that our latest paper "Next-Generation Sequencing for Screening Analysis of Cystic Fibrosis: Spectrum and Novel Variants in a South–Central Italian Cohort" has just been published on Genes MDPI journal and is available in the Molecular Genetics and Genomics section. The authors described as the whole #CFTR gene #NextGenerationSequencing analysis supports an effective #Cystic #Fibrosis screening and molecular diagnosis. Beyond the well-known clinical implications of CF diagnosis in a perinatal program or in a preconceptional assessment, we underlined as clinicians could better monitor also the unrevealed CF-related conditions, with more effective preventive approaches on asymptomatic carriers. An open debate concerns the pathophysiological consequences of having only one CFTR functional copy. Free full text ➡️ https://lnkd.in/d8QbGF9r MDPI Genes MDPI Fondazione Policlinico Universitario Agostino Gemelli IRCCS

10x Genomics is hosting a webinar on the latest advances in spatial biology with the Xenium Prime 5K assays. These assays combine depth and breadth, providing detailed information on each gene and a comprehensive analysis of 5,000 genes. This innovation enables ultra-precise single-cell spatial imaging, offering new insights into the genetic context of disease. In this webinar, 10x experts will present the Xenium Prime 5K and its benefits. Dr. @Kevin Wei, Dr. Blake Warner, and Dr. Caleb Marlin will discuss how these assays help reconstruct the spatial and molecular architecture in diseases like lupus, multiple sclerosis, and rheumatoid arthritis. The speakers will also highlight how Xenium Prime 5K’s sensitivity, specificity, multimodal cell segmentation, and quick turnaround time are accelerating research and enhancing data confidence. Find out more on Pathology News: https://lnkd.in/ehqjsWcm #digitalpathology #pathologynews #spatialbiology