Uma Lakshmipathy’s Post

Newborn genomic screening changes the landscape of early intervention for childhood onset conditions. Nurture Genomics is physician led and supports families and doctors every step of the way. #geneticdisorders #genetics #genomics

Pushing boundaries in rare disorders Here we can see how nanopore sequencing is enabling to find the genetic mechanism of different rare disorders unresolved by other techniques, as @Bedelamo presented on last London Calling 2023. Watch it here: https://lnkd.in/dyJRYge4

Unleashing the Power of Genomic Evolution with Next-Generation Sequencing (NGS) Insights Let's discuss the four crucial elements within this arena.✅ ▪️NGS Revolutionizes Genetic Analysis: Unmatched accuracy redefines genetic analysis, surpassing conventional methods. ▪️Revamped Personalized Medicine: Healthcare undergoes a transformation with tailored treatments derived from individual genetics. ▪️NGS Speeds Diagnostic Precision: Swift, targeted disease detection and treatment redefine diagnostic approaches. ▪️Expansive Influence Beyond Healthcare: NGS innovations extend their reach across diverse fields, promising widespread impact. Join Forces for Precision Medicine، Share your insights to collectively shape the future of NGS-driven precision medicine!✅ #PrecisionMedicine #GenomicSequencing #NGSDrivenPrecision #RapidDiagnosis

Join CENTOGENE’s Prof. Peter Bauer, M.D., Chief Genomic and Medical Officer, and Dr. Jorge Pinto Basto, Vice President Medical Genetics, in our upcoming webinar on November 15 to learn more about how you can capture the most complete clinical picture by leveraging the power of transcriptomics. Don’t miss out as they dive deep into the diagnostic challenges you can overcome with MOx 2.0 – now including RNA sequencing! 📆 Save the Date: November 15, 2023  🕔 Time: 5:00 p.m. CET  🔗 Register Here: https://lnkd.in/efK67Azr #CentoTalk #Webinar #MOx #Multiomics #Transcriptomics #MultiomicRevolution #PrecisionMedicine #RNA #Sequencing #Innovation #Diagnostics #RareDisease

Integration of population genetics (GWAS) and single-cell methods (Perturb-seq), and it's amazing! These approaches can bring computational/statistic results and highly complex biological contexts all together.

The paper introduces "Precision Medicine Knowledge Graph (PrimeKG)," a comprehensive network integrating data from 20 primary resources, including disease ontologies, gene databases, and clinical information. This novel approach enables a holistic understanding of diseases and their associated factors. Key points: 1.PrimeKG is a significant advancement in biomedical informatics, facilitating a comprehensive view of diseases. 2.Advanced techniques, like automated string matching and BERT model embedding, ensure consistency in disease representation. 3.The graph includes detailed clinical features, providing insights into symptoms, causes, and potential treatment strategies. Check more details here. https://lnkd.in/eTRVBuw8

Researchers have linked hundreds of genetic variants to coronary artery disease risk, but as with many conditions, probing the biological relationships between variants and risk remains challenging. Gavin Schnitzler, Helen Kang, Rajat Gupta, Jesse Engreitz and colleagues have developed and applied what they call a Variant-to-Gene-to-Program (V2G2P) approach which prioritizes the pathways shared by multiple risk loci. Using CRISPRi-Perturb-seq and machine learning, they found connections between CAD risk and 41 variants in endothelial cells, which line blood vessels. Several of these variants regulate endothelial cells' response to blood flow, and represent new CAD mechanisms. Learn more in Nature: https://lnkd.in/efcmYbNQ. #BroadInstitute #Science #ScienceNews #Research #ScientificResearch

Check out this engaging Mendelspod podcast discussion between Samuel Strom, PhD FACMG and Theral Timpson on #raredisease and other #hereditary disease testing, focusing in on Illumina’s commitment to making workflows highly accessible and scalable through integrated bioinformatic solutions— #DRAGEN secondary analysis for variant calling and #Emedgene for variant interpretation through research reporting. And if you’re attending #ACMGMtg24, Sam and our team around all Illumina solutions, including DRAGEN and Emedgene, will be there! DM to coordinate - I hope to see you there! #clinicaltesting #clinicalgenomics #bioinformatics #artificialintelligence #automation

Assay consolidation using HiFi sequencing on the new #Revio from #pacbio is here! We are excited to work with #Bioscientia to change the paradigm of what's possible when you can access a fully empowered genome in one sequencing assay! "Results that previously required several tests can now be completed in a single run with Revio. Haplotype phasing is possible on an individual sample, and no longer requires familial segregation analysis. HiFi reads cover repetitive regions, genes with pseudogene backgrounds and allow for methylation analysis – so we can uncover imprinting defects. We believe this technology will benefit families by giving greater clarity in underlying causes of diseases and, ultimately, shortening the diagnostic odyssey they face." https://lnkd.in/ggdt3su7

Join CENTOGENE’s Prof. Peter Bauer, M.D., Chief Genomic and Medical Officer, and Dr. Jorge Pinto Basto, Vice President Medical Genetics, in our upcoming webinar on November 15 to learn more about how you can capture the most complete clinical picture by leveraging the power of transcriptomics. Don’t miss out as they dive deep into the diagnostic challenges you can overcome with MOx 2.0 – now including RNA sequencing! 📆 Save the Date: November 15, 2023  🕔 Time: 5:00 p.m. CET  🔗 Register Here: https://lnkd.in/efK67Azr #CentoTalk #Webinar #MOx #Multiomics #Transcriptomics #MultiomicRevolution #PrecisionMedicine #RNA #Sequencing #Innovation #Diagnostics #RareDisease