Osvaldo Artigalás’ Post

Unlock the power of structural variant analysis with our latest blog post! Discover how the Breakends Table in VarSeq simplifies the identification and interpretation of structural variants, making your research more efficient and accurate. Don't miss out on this deep dive into innovative genetic research tools! Read more here: https://bit.ly/3VLrYBn #Genetics #Genomics #StructuralVariants #VarSeq #GoldenHelix #GeneticResearch #Bioinformatics

“The quality of T2T-YAO is much better than all currently available diploid assemblies,” the paper said, adding that even the haploid version of the genome was higher quality than T2T-CHM13. https://lnkd.in/grWUqQ4C #genomic #dna #genomics #biology #genetics #genes #biotechnology #cells #rnaseq #biotech #health #genome #genetic #research #science #rna #bio #a #dnakit #ngs #healthyfood #genedietconnection #genomicanalysis #optimizeyourhealth #nutritionknowledge #nutritionknowhow #genetictesting #youarewhatyoueat #fixingnutrition #geneticmakeup

New on the Golden Helix Blog: "Using Liftover to Curate GnomAD v4 for GRCh37". A crucial read for genetics professionals navigating the complexities of genomic databases. Highlights: - Effective alignment of GnomAD v4's expansive dataset to GRCh37. - In-depth look at Liftover's role in variant coordinate conversion. - Practical insights into allele frequency and count updates amidst reference assembly changes. Read more here: https://bit.ly/3OhUyYr #Genetics #Bioinformatics #DataCuration #Liftover #gnomADv4 #GRCh37

Introducing our new series 'Teaching Thursdays' this educational series will dive into the fundamentals of genetics, providing you with key insights and knowledge. This week we will explain exactly what the human genome is. The genome is the entire set of DNA instructions found in a cell. In humans the genome consists of 23 pairs of chromosomes located in the cells nucleus as well as a small chromosome in the cell's mitochondria. A genome contains all the information needed for an individual to develop and function. The human genome includes the coding regions of DNA, which encode all the genes (between 20,000 and 25,000) of the human organism, as well as the noncoding regions of DNA, which do not encode any genes. Our gene panels analyse the whole genome or exome and the mitochondrial genome where clinically relevant. For more information on our gene panels visit our website genseqgroup.com. #geneticeducation #genseq #genomicseducation #geneticslearning #genetics

🔬 Understanding the Reference Genome: More Than Meets the Strand! 🧬 Did you know that the reference genome isn’t just a representation of one single DNA strand? Here’s a breakdown of what the reference genome truly represents in genomics: 🧵 Double-Stranded DNA and Reference Representation: The reference genome is a digital consensus of a species' DNA, typically presented as a single linear sequence for each chromosome. Though written in the 5' to 3' direction, it implicitly represents both strands of the DNA double helix because, for every nucleotide, there’s a complementary base on the opposite strand. 💡 Genes Can Be Found on Both Strands: Genes aren’t restricted to one DNA strand! In double-stranded DNA, some genes are transcribed from the top strand, while others are transcribed from the bottom strand. The reference genome helps represent these genes, no matter which strand they originate from, by giving us a single sequence that serves as a reference. 🧬 Variant Calling and Both Strands: During variant calling, sequence reads—regardless of whether they come from the forward or reverse strand—are mapped to the reference genome. Alignment tools then determine the exact strand and orientation, ensuring that our reference genome represents both sides of the story. ✨ Summary: The reference genome may be presented as a single sequence in a 5' to 3' format, but it is truly a comprehensive map that inherently represents both strands of DNA. This allows for accurate mapping, gene annotation, and genomic studies across the entire double helix. Mastering how the reference genome is used is key to understanding how genomic studies unfold and how we make sense of variant calls, gene locations, and DNA sequencing! #Genomics #Bioinformatics #GeneticResearch #ReferenceGenome #ComputationalBiology #DNA #BigDataInGenomics #HealthcareInnovation Photo by Farhad Hariri

"Excited to share that I recently completed an advanced bioinformatics course! Highlights include designing real-time PCR primers, editing Sanger sequencing data, using Genius Prime, whole genome sequencing analysis, SNP identification in protein structures, RNA-Seq analysis with CLC Genomic Workbench, Gene Ontology and KEGG analysis, meta-analysis, data mining, and evaluating coding preferences with R software. #Bioinformatics #Genomics #PCR #NGS #RNASeq #DataScience #GeneticVariation #GenomeAnalysis #BioinformaticsTools 🧬🧫🖥️🌐🔬📊🧠📈🛠️📉"

Is DNA the key to genetic identity? Biology teaches us that what best identifies an individual as belonging to a specific species is their gene pool, i.e., the information contained in the molecules of their DNA. However, some controversial ideas have emerged that propose to accord the cells the role of determining identity, rather than DNA.  #dna #genetics #genomics #bioethics #bioethicsobservatory

🧬✨ Unveiling the Genomic Frontier! ✨🧬 Happy that my latest article is Published on Medium tilted: "Human Genome Project: From Blueprint to Revolution." 🌍🔍 Step into the world where science meets innovation as I uncover how the Human Genome Project is reshaping healthcare and biotech landscapes. From unlocking the secrets of our genetic blueprint to paving the way for personalized medicine, this journey is nothing short of revolutionary! 📖 Explore the full article here:  https://lnkd.in/g3YweG6D #humangenome #genetics #biotechnology #humangenomeproject #mediumarticle

Dear all, I am glad to share with you that I have passed all requirements of the course "Whole genome sequencing of bacterial genomes - tools and applications ". In this brief course I have learned much from the lectures which covered a wide range of genomic analysis tools and techniques, including bacterial typing, antimicrobial resistance surveillance, species/serotype identification, mobile element detection, phylogenetic analysis, and outbreak investigation - all enabled by the power of next-generation sequencing and bioinformatics. Specific tools discussed include KmerFinder, MLST, Resfinder, SeqSero, Serotype Finder, Mobile Element Finder, CSI Phylogeny, Evergreen Tree, and MyDb Finder, demonstrating how these genomic tools can be applied to address various challenges in microbiology and public health. #selflearning #bioinformatics #microbiology #NGS

𝐆𝐖𝐀𝐒 𝐀𝐫𝐫𝐚𝐲𝐬 𝐯𝐬. 𝐖𝐡𝐨𝐥𝐞 𝐆𝐞𝐧𝐨𝐦𝐞 𝐒𝐞𝐪𝐮𝐞𝐧𝐜𝐢𝐧𝐠 (𝐖𝐆𝐒) – 𝐓𝐡𝐞 𝐆𝐞𝐧𝐨𝐦𝐢𝐜 𝐃𝐚𝐭𝐚 𝐃𝐢𝐥𝐞𝐦𝐦𝐚 The genomics landscape is rapidly evolving, and with it comes the critical question: Should we rely on GWAS arrays or fully embrace Whole Genome Sequencing (WGS)? 🔍 𝐖𝐡𝐚𝐭’𝐬 𝐚𝐭 𝐬𝐭𝐚𝐤𝐞? GWAS arrays offer insights into predefined genetic markers, analyzing around 500K to 2M single nucleotide polymorphisms (SNPs). On the other hand, WGS provides an exhaustive view, capturing every nucleotide across the genome—including rare and novel variants. 🧬 𝐓𝐡𝐞 𝐊𝐞𝐲 𝐃𝐢𝐟𝐟𝐞𝐫𝐞𝐧𝐜𝐞: While GWAS arrays can detect common variants effectively, they miss out on the broader genomic landscape that WGS can uncover. In research and clinical contexts, this difference can be game-changing. 𝐋𝐞𝐭’𝐬 𝐝𝐢𝐬𝐜𝐮𝐬𝐬: Are we limiting our discoveries by sticking to array-based methods, or should we start exploring the full potential of WGS? Share your thoughts! 👇 Stay tuned for the next post, where we dive into the depth of data resolution and why it matters in genomics research. #Genomics #WGS #PrecisionMedicine #Research #WholeGenomeSequencing #GeneticResearch #DNASequencing #BiomedicalResearch #GeneticTesting #NextGenSequencing