Alfonso Saera Vila’s Post

🔬 Advancing Target Enrichment for Precision Genomics.🔬 In the area of genomic analysis, precision is paramount. Our team has pioneered a transformative approach to target enrichment, seamlessly integrating it into the standard sequencing workflow on the Element AVITI™ System. Key Points: 🎯 Hybridization-based methods have revolutionized genomic region enrichment over the past 15 years. 🎯 From disease variant discovery to somatic applications, targeted enrichment offers sensitive and efficient sequencing solutions. 🎯 We recognize the need for enhanced sensitivity in challenging genome regions and for detecting low-frequency variants, particularly in somatic analyses. Our Solution: ✨ Integrated, on-flow cell target enrichment on the Element AVITI System. ✨ Unique surface chemistry eliminates additional time and steps in sequencing. ✨ No modifications needed in library preparation; one workflow fits various target enrichment experiments. Ready to Shift Your Science? Dive into our scientific poster for insights into efficient target enrichment in oncology and exome studies: https://bit.ly/3xNtpqO #ElemBio #AVITI #PrecisionGenomics #Sequencing #TargetEnrichment #GenomicAnalysis #ResearchInnovation #ShiftYourScience

📣 NEW WEBINAR SERIES! Decoding complexity: Tackling real-world challenges in variant analysis. Tune in for the first episode of our webinar series named "Overcoming noise in precision variant analysis ". In this episode, Dr. Xiaobin Xing, Director of Bioinformatics at SOPHiA GENETICS explains how signal amplification and noise suppression can increase the analytical performance of NGS applications. 💡In this webinar hosted by Dr. Iole Pezzuto, Dr. Xing is sharing real-world examples of the strategies employed by SOPHiA DDM™️ to accurately detect challenging variants, important for specific applications from liquid biopsy to homologous recombination deficiency (HRD), and pharmacogenomics to RNA sequencing for fusion detection. 🎥 Watch the webinar: https://loom.ly/OJ2w5Sk #webinar #genetictesting #NGStesting #genomics #biotechnology #DNAsequencing #liquidbiopsy #HRD #datadrivenmedicine #AIinHealthcare #futureofhealthcare 

Single-cell sequencing technology obtains genomic, transcriptomic, and multi-omics data to reveal variations and evolution among cell populations. It maps cells better than standard sequencing methods, distinguishes small numbers of cells, discovers heterogeneous relationships between different single cells, and shows differences and evolutionary connections between cell populations. Click here to explore the diverse applications of single-cell sequencing in healthcare and medicine：https://lnkd.in/g6h7qb5z At Novogene, we strive to make single cell technologies easily accessible to drive scientific advancements. Our single cell sequencing solutions are available on both the 10x Genomics Chromium System and Illumina platforms. These cutting-edge techniques allow for comprehensive transcriptional profiling of thousands of individual cells at single-cell resolution. https://lnkd.in/gZ83vM_R #singlecell #10XGenomics #Illumina #novogene

Join us at #AGBT24 for a Poster Flash Talk:   Exome, lcWGS-based copy number assessment, complete transcriptome, and surface protein expression from the same individual cell with ResolveOME.   Tuesday, February 6 11:25 - 11:45am EST Palms Ballroom II & III   This poster presentation will show how a workflow with ResolveOME™ enables robust multiomic profiling that includes exome sequencing, copy number variation detection, RNA sequencing, and surface protein analysis from individual cells—finally providing comprehensive genomic and phenotypic insight at the single-cell level.   Drop by and learn more about how the next generation of single-cell technology can propel your research and development programs.     https://lnkd.in/eQ28Y3f6   AGBT - Advances in Genome Biology and Technology #singlecell #genomics #multiomics #AGBT

Since the landmark Human Genome Project, we have witnessed exponential advancements in sequencing technologies, evolving from the early days of Sanger sequencing to today's high-throughput, massively parallel sequencing. It’s incredible to reflect on the transformative impact genomic research has had on biological and medical sciences. In 2020, nearly 30 years after the Human Genome Project, the #T2T consortium achieved the first gapless, telomere-to-telomere (T2T) assembly of a human chromosome. This breakthrough, focusing on the X chromosome, brought together advanced sequencing technologies from the past six years. Combining data from nanopore sequencing, PacBio, and Illumina, the researchers assembled a nearly perfect X chromosome, marking a significant milestone in genomic research. Looking ahead, we are excited to witness how the next decade of scientific discovery will be driven by the rapid emergence of new multi-omics analysis tools, including #SpatialTranscriptomics, #SingleCellTranscriptomics, #Epigenomics, #Genomics, #Metagenomics, and more. Science is a team effort. We are proud to be part of the global scientific community, offering cutting-edge life science tools to advance genomic discoveries. We are excited to announce the introduction of the first unit of the Illumina #NovaSeqXPlus platform service in Southeast Asia, delivering unprecedented precision and efficiency for your genomic projects. 🔬 Explore our latest data on Novaseq X plus: https://lnkd.in/g2zxfSaV Our team is here to provide the support you need: https://lnkd.in/guFMDP74 #Novogene #NovogeneAIT #SpatialTranscriptomics, #SingleCellTranscriptomics, #Proteomics, #Epigenomics, #Genomics, #Metagenomics and more..

New ResolveDNA® and ResolveOME™ single-cell kits generate sequencing-ready libraries in under eight hours. Leveraging the power of primary template-directed amplification (PTA), these new kits are end-to-end kitted workflows that provide amplification and library preparation reagents, sequencing adapters, and the BaseJumper® bioinformatics platform. This results in high-resolution 97% genomic coverage and a unified workflow that integrates DNA+RNA data from every cell. “These new core kits provide researchers with an optimized and validated workflow that delivers industry-leading single-cell multiomic performance,” said Suresh Pisharody, CEO, BioSkryb. “After introducing the new core kits at AGBT 2024, we’ve received strong interest from researchers that want streamlined workflows without compromising on data quality or multiomic insights." Read the press release to learn more: https://lnkd.in/df3sfsRU #singlecell #multiomic #genomics

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Next-Generation Sequencing (NGS) has revolutionized both our understanding and utility of genomics, marked by a surge in direct-to-consumer genomics and transformative therapeutic advancements. As applications and method developments increase, more challenges are also revealed in the NGS landscape. AUGenomics CEO Hannah Dose talks logistical challenges in NGS as a sequencing service provider, and the strategic solutions that save time and resources. Watch the full video: https://lnkd.in/gUhFX6n6 #genomicsequencing #exomesequencing #bioinformatics

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Happy to share an update on the work we've been doing this summer at UCLA's Bruins In Genomics program. Our project involved a detailed analysis of preprocessing in single-cell RNA sequencing (scRNA-seq) data - a technology that's becoming integral in cellular diversity and disease research. Specifically, we examined how the exclusion of certain cells, whether from the smallest cluster or selected randomly, impacts the Adjusted Rand Index (ARI). To conduct this study, we adjusted the resolution parameter for the Leiden algorithm and randomized the cells removed from six different datasets. What we found was a significant divergence in ARI values in the UMAP space, a result that could lead to errors in cell type identification. These findings highlight the necessity for improved dimensionality reduction algorithms in the field of single-cell genomics. As we continue to investigate this technology, our research emphasizes the need for reliable and interpretable dimensionality reduction techniques. #BruinsInGenomics #singlecellgenomics #UCLA #UMAP #dimensionalityreduction #genomicresearch