Rafa's Moonshot的动态

Third-Gen Sequencing: The Future of Genomics Third-gen sequencing is transforming genomics with breakthroughs in speed, accuracy, and personalization. Here’s how it’s leading the next wave of genetic advancements: 1?? Real-Time Methylation Detection ?? Now, methylation patterns can be identified on-the-fly, we can learn more about gene regulation. 2?? Single-Molecule Sensitivity ?? No amplification needed—analyzes DNA directly for rare variant detection, enhancing precision. 3?? Longer Read Lengths ?? Reads spanning thousands to millions of bases streamline analysis of complex regions. 4?? Rapid Pathogen Identification ?? Ideal for fast clinical diagnostics, from hospital infections to outbreak tracking. 5?? Advances in Personalized Medicine ?? Personalized treatments are now within reach, transforming cancer care and genetic disorder management. The genomics future is here—fast, precise, and incredibly insightful! ?? #ThirdGenSequencing #GenomicsRevolution #PrecisionMedicine #Genetics #sequencing

?? Enhanced 10x Genomics 5’ Single Cell Immune Profiling to improve detection of rare lymphocyte clonotypes. At Single Cell Discoveries, we have tackled the sampling bias in single-cell techniques like the 10x Genomics 5’ immune profiling assay. Our optimized reverse transcription and T-cell receptor enrichment PCR strategy, paired with a custom bioinformatics pipeline, has led to a three-fold increase in detecting γδ T-cells in PBMCs. ?? Impact: This development enhances assay sensitivity, ensuring better coverage of rare but crucial cells (1-5% of PBMCs), and provides a more accurate picture of immune diversity. ?? Read our tech note on the enhanced immune profiling here: https://lnkd.in/eCx4kECN #ImmuneProfiling #singlecellsequencing #γδTCells

Differential protein isoform expression in a transgenic model of tau pathology We have approximately 20,000 genes encoded in our DNA sequence, but each gene can be expressed in many different versions – or isoforms – that are generated by a process called ‘alternative splicing’. This process can produce many isoforms of an expressed gene by sticking together different parts of the coding sequence in different combinations. In a study published in Nature Communications, the team used long-read genetic sequencing, combined with new data analysis tools they created. The new technique can read greater and more complex sequences of genetic material in one go than ever before. This allowed the team to map out the diversity of isoforms in the brains of mice adapted to carry a human mutant form of the protein tau, in the greatest detail to date. As well as finding hundreds of new isoforms of genes known to play a causal role in Alzheimer’s disease, they found specific isoforms that were associated with the accumulation of tau. They were then able to show that many of the isoforms found in mice were differentially expressed in tissue from human donors who had died with Alzheimer’s disease, showing the discoveries are relevant in the human brain. #ScienceMission #sciencenewshighlights https://lnkd.in/eufYCDfu

What drives brain diseases Every risk gene may impact one or several different cell types. Comprehending how those cell types—and even individual cells—impact a gene and affect disease progression is key to understanding how to ultimately treat that disease. This is the study’s first author, co-invented the new technique, named in vivo Perturb-seq. This method leverages CRISPR-Cas9 technology and a readout, single-cell transcriptomic analysis, to measure its impact on a cell: one cell at a time. Using CRISPR-Cas9, scientists can make precise changes to the genome during brain development, and then closely study how those changes affect individual cells using single-cell transcriptomic analysis—for tens of thousands of cells in parallel. The method also enables a level of scalability that was previously impossible—the research team was able to profile more than 30,000 cells in just one experiment, 10-20 times accelerated from the traditional approaches. In a pilot study using this new technology, the team’s interest was piqued when they saw a genetic perturbation elicit different effects when perturbed in different cell types. This is important because those impacted cell types are the sites of action for particular diseases or genetic variants. “Despite their smaller population representations, some low-abundant cell types may have a stronger impact than others by the genetic perturbation, and when we systematically look at other cell types across multiple genes, we see patterns. That’s why single-cell resolution—being able to study every cell and how each one behaves—can offer us a systematic view,” the author says. #ScienceMission #sciencenewshighlights https://lnkd.in/gKgEcBPs

?? Rare Genetic Diseases: Understanding the Unseen Challenges ?? Genetic diseases may be rare, but their impact on patients and families is profound. With advancements in molecular biology and genetic research, we’re uncovering new insights into how these conditions arise and how we might treat or even prevent them. ?? What are Rare Genetic Diseases? They are disorders caused by mutations in a single gene, often inherited and affecting fewer than 1 in 2,000 people. Examples include cystic fibrosis, Tay-Sachs disease, and Huntington's disease. ?? The Importance of Research Despite being rare, studying these diseases can help: Improve diagnostic techniques. Develop targeted therapies through gene therapy. Understand more common diseases due to shared genetic pathways. ?? The Role of Molecular Biology From DNA sequencing to CRISPR gene editing, molecular biology tools are vital in identifying genetic mutations, understanding their effects, and paving the way for personalized medicine. ?? Together, let’s support ongoing research and innovation to bring hope to those affected by rare genetic diseases. Every breakthrough counts! #MolecularBiology #GeneticResearch #RareDiseases #PersonalizedMedicine #GeneTherapy

?? Unlock the Potential of Oligonucleotides with Genome X! ?? Oligonucleotides have a wide range of powerful applications in modern molecular biology and genetic research. Explore how these versatile molecules can be applied in various fields: ? Primers in PCR – Amplify specific DNA sequences for genetic analysis ? Gene Therapies – Pave the way for new treatments ? Detection and Labeling – Target specific DNA or RNA sequences ? DNA Sequencing – Discover new genetic insights ? Gene Synthesis – Build genes from scratch ? Gene Expression Studies – Understand gene function and regulation At Genome X, we provide expert services in oligonucleotide synthesis to support your research and innovation! ?? Visit our website or scan the QR code to learn more about our services. ?? Contact Us: +92 337 4845 825 ?? Website: www.thegenomex.com #Oligonucleotides #PCR #GeneTherapy #DNASequencing #GeneSynthesis #MolecularBiology #Genomics #BiotechResearch #GenomeX

Providing insights into genetic variations through complete genome sequencing and tailored solutions. ?? Whole Genome Sequencing (WGS) on Illumina NovaSeq 6000: 1. Accurate species identification and evolutionary research through comparative analysis. 2. Comprehensive data analysis including SNPs, Indels, Copy Number Variations, Structural Variants. 3. Uncovering genetic variations and gaining a thorough understanding of genome architecture. ?? mRNA Sequencing: 1. Identifying transcript isoforms, gene fusions, and allele-specific expression. 2. Gaining a complete view of the coding transcriptome. 3. Discovering novel exons, genes, and splice isoforms. 4. Advanced analysis options with alternative splicing, gene fusion, and network interactions. Take your research to new heights with Nucleome! ?? ?? Contact Us today! #Dashera #FestiveOffer #Genomics #WGS #mRNASequencing #IlluminaNovaSeq #ResearchInnovation #Nucleome #NextGenSequencing #ResearchDiscount #DataInsights

?? **Creating Genetic Disease Cell Models Using CRISPR-Cas9 Technology** ?? I'm thrilled to share insights into our recent work on generating cell models for genetic diseases using the powerful CRISPR-Cas9 genome-editing tool! By targeting critical genes like **PAX6** and **SOX2**, we've developed precise, genetically engineered cell lines that offer a deeper understanding of gene function and disease mechanisms. In this study: 1. **PAX6** and **SOX2** genes were targeted for editing, achieving targeted homozygosity in specific clones. 2. Through meticulous CRISPR design and optimization, we achieved a high targeting efficiency of **66.3%**, with a **25.6%** efficiency for generating homozygous models of PAX6/SOX2 double knockouts. 3. These cell models pave the way for innovative research into gene-disease relationships and therapeutic development. CRISPR-Cas9 continues to revolutionize biomedical research, opening doors to new therapeutic strategies and advancing our understanding of complex genetic conditions. Excited to be part of a future where genetic diseases are not only understood but also treated effectively! #CRISPR #GeneticResearch #BiomedicalInnovation #GeneEditing #CellModels #Biotechnology

A recent study of nearly 2,000 dystonia patients reveals key insights into the genetics of this complex movement disorder: ?? New discoveries: Identified 137 distinct pathogenic or likely pathogenic genetic variants across 51 genes, including 77 never reported before. ?? Diagnostic advances: Exome sequencing provided genetic diagnoses for nearly 10% of patients, even after prescreening. ?? Key findings: Reaffirmed known dystonia-linked genes and expanded the phenotypic spectrum for several others. ?? Predictive insights: Early age of onset and generalized dystonia were the strongest predictors for a genetic diagnosis. These findings underscore the value of advanced genetic testing in unraveling dystonia’s complexity and improving diagnoses for patients worldwide. ? Read more: https://ow.ly/IteG50UymPl

Very excited to share that my paper with Dr. Ross Hardison's group and the ValIdated Systematic IntegratiON of Hematopoietic Epigenomes (VISION) data consortium is coming out in Genome Research! Check it out to learn about interspecies regulatory landscapes and elements revealed by a novel joint systematic integration of human and mouse blood cell epigenomes. Find the full paper here: (https://lnkd.in/eM7zQjKp) #research #genomeresearch #epigenomes #scientificpublication Several major innovations: (1) Extend the IDEAS a Bayesian statistic model (Zhang et al. 2016) to jointly learn epigenetic states and assign them to annotate the epigenomes in human and mouse blood cells. (2) Our detection, even in segments of DNA that do not align between species, of epigenetic similarity indicative of a common role in gene regulation suggests that processes or structures, such as chromatin interactions, chromatin complexes, or molecular condensates, may be maintained between species in a manner that is not fully revealed by comparisons of genome sequences More details about the paper highlights and the link to the major resources are listed in this tweet (https://lnkd.in/e-RE789V)