Recently worked on an interesting case: a 5-year-old boy with Noonan Syndrome. I analyzed the PTPN11 gene, which plays a key role in how cells grow and develop. When this gene has variants, it can lead to conditions like Noonan Syndrome. Using R, I built a workflow (linked below) to pull genetic variant data from ClinVar and analyze it with Ensembl VEP. This helps connect genetic information to real clinical insights. It's rewarding to see how bioinformatics can contribute to understanding rare genetic conditions. #Bioinformatics #Genetics #NoonanSyndrome https://lnkd.in/dJq76Tew

Rare DNA elements, non-canonical fragments outside standard chromosomes, are increasingly recognized for their roles in gene regulation, genome stability, and disease. In this case study, we share how a multi-stage analytical framework was used to: - Combine Illumina and Nanopore sequencing data - Annotate rare DNA elements against known genomic features - Connect elements to transcriptional activity with RNA-seq - Compare across samples to identify conserved and context-specific elements The workflows produced high-confidence assemblies, motif enrichment results, and reproducible outputs that supported new biological insights. Read the full article: https://lnkd.in/eUkrxqQh #Genomics #Bioinformatics #Sequencing #DataScience #RNAseq #DNA

Happy Monday! New case study: how bench scientists can turn complex sequencing data into clear decisions with advanced informatics. #Bioinformatics #Genomics

🧬 The progranulin (𝘎𝘙𝘕) gene is central to understanding frontotemporal degeneration (FTD). The progranulin protein helps maintain healthy brain cell function. When GRN is altered, progranulin levels drop — and this loss can lead to FTD over time. Today, many clinical trials are exploring 𝘎𝘙𝘕-related FTD. For families, knowing genetic status is not only empowering — it may also create opportunities to participate in groundbreaking research. At Progranulin Information Navigator, we provide access to free genetic counseling, testing, and a searchable directory of FTD research studies. 👉 https://lnkd.in/eaqY2eXR #FTD #FTDGenetics #EndFTD #Progranulin #ClinicalTrials #FTDResearch #GRNResearch #CureFTD #GRNFTD

Gene editing isn't just science fiction—CRISPR is transforming clinical labs by enabling accurate DNA alterations to detect genetic diseases at unprecedented speed. This technology opens doors for new diagnostic tests and therapies tailored specifically to the genetic makeup of each patient.

Today, we announced our expanded agreement with Oxford Nanopore Technologies to accelerate the development of our genetics portfolio through 2032.     This extended collaboration builds on the successful launch of the AmplideX® Nanopore Carrier Plus Kit for genetic carrier screening and reflects our commitment to advancing the screening and diagnosis of genetic disorders.    By leveraging Oxford Nanopore’s platforms, we can develop genetic testing solutions that offer enhanced capabilities to laboratories worldwide.    Read the full press release: https://lnkd.in/djGYNXA6   #Genetics #Diagnostics #Sequencing #Nanopore 

Exciting news! We have expanded our partnership with Oxford Nanopore Technologies to continue building our genetics portfolio. Leveraging ONT's cutting-edge platform, we continue to push the boundaries of genetic testing innovations. Our recent development, the AmplideX® Nanopore Carrier Plus Kit (RUO), is just the first in the portfolio. Read the full press release for more details: https://lnkd.in/djGYNXA6

PASTE opens the door to safer, more accurate, and more versatile genetic therapies --- especially for diseases caused by missing or faulty genes. The future of gene editing isn't just about cutting DNA, it's about building it right.

Learn how long-read sequencing is transforming polyploid and large genome assembly in plants in our case study. Discover how advanced genomic technologies tackle complex plant genomes, providing insights into polyploid evolution, gene duplication, and trait discovery. Read more: https://ow.ly/KVqG50WO0va #PlantGenomics #PolyploidAssembly #LongReadSequencing #GenomeAssembly #Agrigenomics

#Epigenetic switch and gene editing activate human T cells “We've developed an approach that allows us to rewrite the genetic code – that's how we put in a CAR – and we can start rewriting the epigenetic code at a particular place in the epigenome using targeted delivery of methyltransferases or demethylases with CRISPRon or CRISPRoff.” — Luke Gilbert, Arc Institute, University of California, San Francisco   “All of a sudden you can start imagining a whole program of genes that you'd like to turn off to put the cells into a certain functional state.” — Alex Marson, Gladstone Institutes, University of California, San Francisco Read the article by Mar de Miguel for free with one-time registration in BioWorld News: https://lnkd.in/edzY7uHd #preclinical #research #science Clarivate for Life Sciences & Healthcare