GeneSpectrum Academy’s Post

Take advantage of these promotions on hWES and Low Pass hWGS at Novogene! Book a 15-minute call (link in profile) to discuss your project and seize this opportunity. Let's accelerate your discoveries together! 🧬 #Genomics #Research #hWES #hWGS

💡 An interesting article from one of our users, that discusses an approach to genetic testing and whole genome sequencing (WGS) for early-onset cardiomyopathy. Using @Illumina technology, genomic DNA was sequenced, and data were processed through Geneyx Genomex Ltd. Analysis. 💡 This analysis considered factors like phenotypic relations, allele frequencies in healthy populations, predicted harmful effects, segregation, and functional impacts. 💡 Variants were classified following ACMG - American College of Medical Genetics and Genomics, with further validation through Sanger testing and RNA testing for splicing variants.  💡 Precision medicine is paving the way for advanced heart care, especially in complex cases where traditional methods fall short. 💡 See here for more details: https://lnkd.in/evFRMM8y

🔬 **Optical Genome Mapping (OGM) vs. Next-Generation Sequencing (NGS): Which is Better?** **What is Optical Genome Mapping (OGM)?** OGM is a cutting-edge technique that creates high-resolution, large-scale maps of the genome by physically stretching and labeling DNA molecules. This allows for the detection of structural variations and provides a visual representation of the genome's architecture. **Optical Genome Mapping (OGM):** ✅ Ideal for detecting large structural variations (insertions, deletions, duplications, inversions, translocations). ✅ Provides a high-resolution, visual representation of genome architecture. ✅ Effective in analyzing complex genomic regions. **Next-Generation Sequencing (NGS):** ✅ Excels at identifying small-scale variations (SNVs, indels). ✅ Essential for gene expression and transcriptome analysis. ✅ Comprehensive variant detection, cost-effective, and high throughput. 🔗 **Combined Use:** Leverage both technologies for a complete genomic view—OGM for structural insights and NGS for detailed sequence information. Choosing the right tool depends on your specific needs, whether it's large-scale structural insights or detailed genetic analysis. In many cases, integrating OGM and NGS offers the most comprehensive understanding of the genome. #Genomics #GenomeMapping #NextGenSequencing #OGM #NGS #Biotech #Research #HealthcareInnovation

A Dutch research team compared three NGS technologies: targeted panel sequencing (tNGS), whole exome sequencing (WES), and whole genome sequencing (WGS), and found that each has its own advantages. tNGS is cost-effective and fast, suitable for rapid screening; WES offers comprehensive coverage, aiding in the discovery of new variants; while WGS provides the most comprehensive genetic information, though it comes with the highest cost and data volume. The choice of technology depends on the screening needs, budget constraints, and data processing capabilities. With technological advancements, NGS is expected to play an even greater role in neonatal screening, offering a more comprehensive safeguard for the health of newborns. Full text：https://lnkd.in/gPHGpNgJ Nanodigmbio is dedicated to providing advanced tools and resources to researchers to advance the field of life sciences. Whether you are looking for ultra-sensitive probes, library preparation kits, or other related products, Nanodigmbio has corresponding solutions to meet your needs. For more details, please click on the link below: https://lnkd.in/gvZqz7NC #NewBornScreening #NGSTechnology #Genetic

Rapid Whole Genome Sequencing (rWGS) is a powerful tool for detecting several types of disease-causing variants in a single test, allowing for a unifying diagnosis in one test and often eliminating the need for sequential targeted testing. At Baylor Genetics, rWGS is a high throughput test with a rapid turnaround time of 5 days. With our state-of-the-art technology, rWGS can help solve your patient’s unexplained complex medical problems. Learn more about our rWGS: https://bit.ly/42iERVj #ThinkBG #BGreat #GenomeSequencing 

🌟 Ready to embark on a journey through the world of RNA? Let’s decode the symphony of gene expression with RNA-Seq! 🎶✨ From ensuring your RNA is top-notch to unveiling the secrets behind differential expression, this step-by-step roadmap is your key to unlocking biological insights. 🗝️🔍 Join us as we navigate the twists and turns of data analysis—from quality checks to stunning visualizations. Whether you’re a seasoned researcher or just starting, this guide will help you master the art of RNA-Seq! Are you ready to amplify your discoveries? 🚀🧬 #RNASeq #Bioinformatics #Genomics #DataAnalysis #GeneExpression #NextGenSequencing #MolecularBiology #ResearchMagic"

This paper shows the importance of how choosing the secondary analysis solution for NGS data affects the variant calling accuracy and how easily you can miss tremendous number of variants on a whole genome scale which, at the end, directly affects the patients. The winner of the second precisionFDA Truth Challenge for short-read sequencing in 2020 was Illumina’s DRAGEN. It outperformed other pipelines in particular in difficult-to-call genomic regions. The latest version of DRAGEN outperformed the version used in this study from 2020. https://lnkd.in/d4FVxyG4

𝐄𝐟𝐟𝐞𝐜𝐭𝐢𝐯𝐞 𝐠𝐞𝐧𝐨𝐦𝐞 𝐞𝐝𝐢𝐭𝐢𝐧𝐠 𝐰𝐢𝐭𝐡 𝐚𝐧 𝐞𝐧𝐡𝐚𝐧𝐜𝐞𝐝 𝐈𝐒𝐃𝐫𝐚2 𝐓𝐧𝐩𝐁 𝐬𝐲𝐬𝐭𝐞𝐦 𝐚𝐧𝐝 𝐝𝐞𝐞𝐩 𝐥𝐞𝐚𝐫𝐧𝐢𝐧𝐠-𝐩𝐫𝐞𝐝𝐢𝐜𝐭𝐞𝐝 ω𝐑𝐍𝐀𝐬 Exciting advancements in genome editing have been reported in a recent study published in Nature Methods! Researchers optimized the ISDra2 TnpB system, resulting in a 4.4-fold improvement in editing efficiency for mammalian cells. By developing new variants and creating a comprehensive dataset on TnpB editing, they established guidelines for on-target and off-target editing. Moreover, they introduced the TnpB editing efficiency predictor (TEEP), a deep learning model that predicts guiding RNA (ωRNA) activity with impressive accuracy (r > 0.8). Using TEEP, editing efficiencies reached 75.3% in murine liver and 65.9% in murine brain following AAV vector delivery. This innovative approach positions TnpB as an ultracompact programmable endonuclease, paving the way for significant advancements in genomic research and therapeutic applications. #GenomeEditing #CRISPR #Biotechnology #ResearchInnovation

🔬 Whole-Genome Sequencing (WGS) vs. Whole-Exome Sequencing (WES): Which One to Choose? 🧬 When it comes to genetic research and clinical diagnostics, the choice between WGS and WES is critical for getting the right insights. Here’s a quick comparison: 📊 Whole-Genome Sequencing (WGS): Scope: Sequences the entire genome, including both coding and non-coding regions. Applications: Comprehensive view of the genome for research, rare variant discovery, structural variants, and non-coding regions. Cost: Higher due to the volume of data. Use Case: Ideal for uncovering novel or rare variants that may exist outside of coding regions. 📈 Whole-Exome Sequencing (WES): Scope: Focuses only on coding regions (exons) that make up 1-2% of the genome. Applications: More targeted approach, great for detecting protein-coding mutations, commonly used in clinical settings. Cost: More cost-effective than WGS. Use Case: Ideal for identifying mutations in known genes for clinical diagnostics or when the focus is on protein-coding regions. #Genomics #WholeGenomeSequencing #WholeExomeSequencing #WGS #WES #Bioinformatics #PrecisionMedicine #DNASequencing #HealthcareInnovation #Genetics Check out the infographic for a visual comparison of both sequencing methods! 👇

Genome sequencing is more than just reading DNA. It's a key that opens doors to groundbreaking research, leading to advances in vaccine and drug development, and offering new horizons in clinical diagnosis and treatment. Genome sequencing isn't just about science; it's about the future of humanity. #dantelabs #genomicexploration #unlockyourgeneticCode #geneticdiscovery #bookyoursession #exploreYourGenes