Sebastian Fröhler’s Post

Is it possible to resolve all the VUS variants by 2030? 🔍 Genomize’s latest blog explores the ambitious goal of resolving all Variant of Unknown Significance (VUS) in human genetics by 2030. Addressing VUS is crucial as it presents a significant challenge in genetic testing, often leaving diagnoses shrouded in uncertainty. 🧬 This blog article also spotlights a key study by Fowler and Rehm published in December 2023. Their opinion piece discusses the efforts and advancements needed to overcome this challenge, including the vital role of collaborative data sharing and sophisticated computational tools. To read the full article: https://lnkd.in/ddpsa832 #genetics #genomics #ngs #diagnostics #genetictesting #bioinformatics #ai #genomize

#Blog | 🧬 Genetics has become a crucial tool in modern medicine. Its application opens up new opportunities to better understand diseases and offer personalized medical management. In this context, genome and exome studies have revolutionized the way an individual’s genetic information is analyzed and interpreted. ⬇️ In this article, we explore the differences between these two types of studies and how to determine which one is best suited to each case. ✍️ Bibiana Palao | Chief Product Officer #VeritasInt https://hubs.ly/Q02js2D30

Exciting new diverse genetic database - and a step towards improving equity in human genomics research 🌍 Million Veterans Program releases genetic database with 600,000+ participants with a more diverse population. 👉 Read the study here: https://lnkd.in/difJBR2j 👉 Read the summary here: https://lnkd.in/dtw9RsTy There’s still a long way to go to improve diverse populations in genomic discovery. But it’s efforts like these that pave the road for real precision medicine and lay the foundation for a future of more diverse genetic research. The genome-wide associations for 2,000+ traits from are made freely available to the global research community: https://lnkd.in/dkQyNXxh 🔗 Read more about why diverse genetic population matters here: https://lnkd.in/dDJ4t_9A #HumanGenetics #HealthCareForAll

Challenges and perspectives in computational deconvolution of genomics data #genomics #dataanalysis

Genotype imputation is essential in #genomicresearch, allowing researchers to predict unobserved genotypes and fill in gaps in genetic data, therefore improving the power and resolution of genetic association studies. A recent study from SelfDecode introduces Selphi, a novel imputation method with superior accuracy to existing methods, especially for rare variants. Selphi's development was accelerated using the Almaden Genomics g.nome® platform, achieving a 70% reduction in runtime and a 25-fold reduction in costs. Discover how Selphi is now advancing disease prediction and personalized medicine—read more in our latest blog post: https://lnkd.in/gvxxZP-u #genomicsequencing #imputation #genomicanalysis

Two positive stories and one negative story from the world of Genomics. Positive ones: 1. Craig venter's Human Longevity Spin-Out Simplify Genomics Aims to Tap into Variant Interpretation Market 2. M42 and Broad Institute work together with Microsoft and the International Center for Genetic Disease leveraging Terra to enable a foundation for precision health Negative one: 1. 23andMe's Fall From $6 Billion to Nearly $0 References: https://lnkd.in/eQkj6cX6 https://lnkd.in/e9exznaK https://lnkd.in/e49XNnri #genomics

Whole Genome and Exome Sequencing in Rare Diseases leaves many questions still on the table for many in the field of genomics. Ali M Tabish tackles some of these questions. Questions such as: ❓👨⚕️There has been a massive shift from a 10% diagnostic rate with traditional methods to a significantly higher rate using WGS and ES, how does this improve diagnostic rates? ❓💊In what ways can artificial intelligence (AI) enhance the interpretation and reporting of genetic results in the study of rare diseases? ❓📊 What role does phenotype information play in the genetic analysis of rare diseases using WGS and ES, and how can incomplete phenotypic data impact the diagnostic process? An interesting article: https://lnkd.in/d4UGRXq5 #WGS #exomesequencing #AI #genetics #diagnostics

The human reference genome has a Eurocentric bias, leading to missed birth defects in prenatal screenings, difficulty in diagnosing genetic disorders, and problems in risk assessment for genetic diseases—especially in underrepresented populations. Assoc Prof Benjamin Langmead and PhD candidate Kuan-Hao Chao's new algorithm turns genomic data into a Wheeler graph for a more inclusive, powerful framework for research. “WGT: Tools and algorithms for recognizing, visualizing, and generating Wheeler graphs.” is published in iScience. Their “Wheelie” algorithm checks whether a given graph has the properties necessary to restructure it into a Wheeler graph. The heuristic algorithm first eliminates impossible combinations to provide an approximate ordering of the graph’s nodes. Wheelie then employs a satisfiability modulo theory solver—which acts like a smart puzzle solver—to determine the final, optimized Wheeler graph ordering. Prof Sanjit Seshia and Pei-Wei Chen from UC Berkeley are co-authors. #Wheelergraphs #bioinformatics #datastructures #genomics #computationalbiology #graphtheory #pangenomics

An important class of protein-altering genetic variation – duplicated or deleted chunks of DNA overlapping just one or two exons – have until now been left out of sizable efforts to explore the genetic roots of human phenotypes. Margaux Hujoel, Po-Ru Loh, and others suspected they could detect these smaller copy number variants (CNVs) by considering SNP haplotypes in massive exome sequencing datasets. Applying this approach to data from 500,000 research participants in the UK Biobank, they uncovered trait-influencing variants that have eluded past genetic association studies and new gene-trait relationships implicated by rare CNVs. Read more in Nature Genetics. #BroadInstitute #Science #ScienceNews #Research #ScientificResearch

👉 Researchers from Universität Leipzig Medical Center have co-published a new study on genetic testing in The New England Journal of Medicine (NEJM Group), together with scientists from MIT and Harvard. Rami Jamra, Professor Dr. med.  and his team from the Institute of Human Genetics in #Leipzig studied families with suspected genetic disease where a method called ‘exome sequencing’ had failed to provide a diagnosis. Using ‘genome sequencing’, some of these families were able to be diagnosed. Improved diagnosis helps people affected by genetic diseases by giving them more clarity on their condition – and potentially paving the way for personalized treatment. In the future, researchers in Leipzig aim to sequence even more genomes. Their ultimate goal: To help decode all genetic diseases one day. 👍 Find out more at: https://lnkd.in/dStKj9qs   #biosaxony #healthcare #biotechnology #personalizedmedicine