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Defining new genetic causes of disease requires collaborations between researchers, clinicians, patients and families, and diagnostic laboratories. Meghan Towne, MS, CGC, LGC, explains the importance of continued gene-disease relationships discovery for the genomics community. Explore how labs can harness the power of our collective knowledge to push discovery forward, especially for rare and ultrarare conditions. #genetictesting #genomics #raredisease #exome #GeneMatcher #genechat https://hubs.ly/Q02j2bbR0

Providing invaluable insights into human health and diseases!

Experience the pinnacle of precision genomics with PacBio HiFi sequencing! Achieve >99.9% accuracy in identifying SNVs, indels, and SVs with long reads up to 25 kb. Generate complete, phased genome assemblies for comprehensive insights into health and disease. Enhance diagnosis sensitivity and produce reference-quality de novo assemblies for population-specific, disease-specific, or individual genomes. Experience unmatched coverage and resolution, even in complex regions. Join us in setting the standard in precision whole genome sequencing! #sequencing #wgs #genomics #svdiscovery

Velsera and Sentieon’s Pangenotyper has won the Best-of-Show award at Bio-IT World 2024! Pangenotyper is revolutionizing NGS data analysis with unprecedented accuracy and efficiency. By overcoming the limitations of traditional linear reference genome analysis, Pangenotyper ensures more accurate identification of genetic variants across diverse populations, reducing costs and processing times. Key Benefits:  🔸 Higher accuracy in variant detection  🔸 Faster processing times  🔸 Cost-efficient analysis  🔸 Compatibility with standard formats and tools     Whether you're in biopharma, clinical research, or population health studies, Pangenotyper can transform your genomic data analysis, uncovering actionable insights and driving personalized medicine forward. Learn more about how Pangenotyper can enhance your research today: https://lnkd.in/eHg9kSGN #BioITWorld #NGS #Genomics #PrecisionMedicine #Pangenotyper  

In recent years, genetic sequencing has emerged as a powerful tool in healthcare, offering insights into our genetic makeup and predispositions to various diseases. However, there is a stark disparity in the availability and accessibility of genetic testing globally. The current genomic data available lacks representation and fails to capture the genetic diversity that exists across different ethnicities and geographical regions. Read our latest blog “Bridging the Divide: Democratizing Genomic Testing by Lowering the Barriers to DNA Sequencing” to learn about the logistical barriers in democratizing next-generation sequencing (NGS) and the latest advancements in NGS reagent solutions that help to overcome these challenges and bridge the gap by eliminating the need for cold-chain shipping and storage. Click here to read the blog; https://lnkd.in/e-DWGDMV #nextgenerationsequencing #genomics #ngs #moleculardiagnostics #cancerscreening

Are you familiar with our BluePrint Panel? This next-generation sequencing (NGS) test assesses the exonic regions of up to 1,000 genes. This panel can enable more accurate diagnoses and tailored treatment plans. Alongside our BluePrint Panel, Baylor Genetics offers a suite of NGS panels specifically tailored for rare diseases. Each panel is designed to meet the unique needs of clinicians, ensuring that every patient receives the most precise and relevant genetic insights. Explore our BluePrint Panel and discover how our other NGS panels for rare diseases can fit your needs. Let's unlock the potential of genetic insights together. Learn more: https://lnkd.in/eskYJQ8F  #ThinkBG #BGreat #GeneticTesting

Explore the intricate realm of Genomic Mutations, their impacts on health, and advances in detection and management strategies. https://lnkd.in/gm-3F6FS #apgxa #pgx #pharmacogenomics #genomics #mutations #genomicmutations #omics

How do you solve an Unresolved case? A lot of patients remain undiagnosed even after genomic sequencing. One major factor is the lack of a streamlined interpretation algorithms. ACMG guidelines are in place, however, the absence of effective implementation and integration with diverse databases leads to the oversight of many variants. But that’s only one of many complexities surrounding unresolved cases. Here at GenomeArc, we implemented genomic medicine platform Horizon to resolve these complexities. By enabling researchers and clinicians to understand genomic data and link it to different OMICS, we’re taking one step forward. But we want to hear from you. What major challenges do you face in handling complex or unresolved cases and what do you think the solution could be? Share your thoughts in the comments! #genomics #unresolvedcases #variantinterpretation #acmg #genomicmedicine #VUS

💫Here are genetic insights that you will need to know about. By integrating DNA and RNA sequencing data, Geneyx Genomex Ltd. is providing a comprehensive view that is achievable. This integration enhances accuracy in detecting structural variants, offering thorough genomic insights. Discover more about our innovative approach. Read on. https://lnkd.in/dGFJYbCB #Genomics #DNA #RNA #Sequencing #GeneyxAnalysis

Did you know that rare diseases collectively affect 1 in 20 people, yet over half of the 10,000 cataloged rare diseases lack an established genetic cause? Genomic sequencing (GS) can be a powerful tool for uncovering new gene-disease associations but comes with bioinformatic challenges due to the large data files generated. Enter a new tool described by Greene et al., "Rareservoir"— a compact database that can efficiently analyze large numbers of genomes by only keeping rare variants (variants for which all population-specific MAFs are 77k individuals, this group identified 19 new gene-disease associations, exemplifying the power of GS for discovery in the rare disease space. #AmbryTopTenPublications #GeneChat #genetictesting https://hubs.ly/Q02c-34M0