biomodal’s Post

𝐁𝐞𝐭𝐭𝐞𝐫 𝐥𝐚𝐭𝐞 𝐭𝐡𝐚𝐧 𝐧𝐞𝐯𝐞𝐫, 𝐫𝐢𝐠𝐡𝐭? I am very glad that my Master's degree main article is out and published in BMC Genomics! Title: "𝗘𝘃𝗼𝗹𝘂𝘁𝗶𝗼𝗻 𝗼𝗳 𝗺𝘆𝘅𝗼𝘇𝗼𝗮𝗻 𝗺𝗶𝘁𝗼𝗰𝗵𝗼𝗻𝗱𝗿𝗶𝗮𝗹 𝗴𝗲𝗻𝗼𝗺𝗲𝘀: 𝗶𝗻𝘀𝗶𝗴𝗵𝘁𝘀 𝗳𝗿𝗼𝗺 𝗺𝘆𝘅𝗼𝗯𝗼𝗹𝗶𝗱𝘀." 𝗬𝗼𝘂 𝗰𝗮𝗻 𝗰𝗵𝗲𝗰𝗸 𝘁𝗵𝗲 𝗽𝗱𝗳 𝗼𝗳 𝘁𝗵𝗲 𝗳𝘂𝗹𝗹 𝗮𝗿𝘁𝗶𝗰𝗹𝗲 𝗳𝗼𝗿 𝗳𝗿𝗲𝗲 𝗶𝗻 𝗺𝘆 𝗥𝗲𝘀𝗲𝗮𝗿𝗰𝗵𝗚𝗮𝘁𝗲 𝗽𝗮𝗴𝗲. We fully assembled 5 mitochondrial genomes of myzoxoan species, from a clade that was lacking enough representativity in the genomics databases. Our results suggest that the loss of cytochrome oxidase genes is not a characteristic of all myxobolids, the ancestral myxozoan mt genome was likely encoded on a single circular chromosome, and mt plasmids exist in a few lineages. Our findings indicate that myxozoan mt sequences are poor markers for reconstructing myxozoan phylogenetic relationships because of their fast-evolutionary rates and the abundance of repeated elements, which complicates assembly.

Welcome to our newest video where we delve into the essential topic of biobanking and its significant impact on genetics research! In this video, we will explore how biobanking simplifies the work of researchers by providing a centralized repository for storing and managing biological samples. Join us as we discuss the crucial role of biobanks in advancing genetic research and how they contribute to important discoveries in medicine and beyond. Discover why biobanks are indispensable in studying diseases, developing new treatments, and unlocking the secrets of the human genome. Don't miss out on this informative discussion! Remember to like and share this video to spread awareness about the importance of biobanking in genetics research. Thank you for watching! #biobanking #GeneticsResearch #ResearchInnovation OUTLINE: 00:00:00 The Role of Biobanks in Genetics Research 00:01:16 The Importance of Genetic Diversity in Research 00:02:24 The Silent Facilitators of Scientific Breakthroughs

Super interesting article about the odyssey of classifying a "rare" variant that highlights the need for more genetic diversity in reference genomes. I remember my "wait, what?!" moment when I first realized that the most widely used reference genome is 20 years old with subpar coverage and is based on a handful of homogenous individuals. Even the current largest resource for examining variant frequency, gnomAD, cannot yet fully represent the breadth of genetic heterogeneity in subpopulations. In this paper, a rare variant with an overall gnomAD frequency of 0.002% and subpopulation max frequency of 0.007% was found to actually have a frequency of up to 9% (!!!) in the Oceanic population, which was the ancestry of the two individuals described in the manuscript. Kudos to Jodie Ingles and the researchers involved for going the extra mile to find answers for these patients! Here is the preprint: https://lnkd.in/e9TEFXDt And the STAT news article:

Thoroughly enjoyed reading this review on the "Genetic and Molecular Architecture of Complex Traits" from Tuuli Lappalainen and colleagues. It is inspiring to see how technological advancements and collaborative efforts continue to advance our understanding of genetics. Check out the article here: https://lnkd.in/eqcMgj2D

Very helpful to get a preview of the forthcoming ACMG/AMP/CAP/ClinGen v4 sequence variant classification guidelines https://lnkd.in/gYv8eM8W . These guidelines are still a ways off from being published (2024? 2025?), but great to see how things have evolved since the last (2015) guidelines came out and to start planning for the implementation. #genetictesting #precisionmedicine ACMG - American College of Medical Genetics and Genomics ClinGen Resource

To have genomics research that’s gold-medal worthy, we need to look beyond having one human genome sequence! One sequence can’t possibly represent everyone’s genomic diversity.   That’s why researchers are working on a pangenome, a collection of complete genome sequences in which human populations and their genomic variants are better represented!   Researchers from the international Human Pangenome Reference Consortium have released a high-quality collection of complete reference human genome sequences! This will help make genomics studies more diverse and representative of all people! https://lnkd.in/eBNF7SXJ

🔬 New research alert! Associate Professor John Barton's lab has developed popDMS, a computational method that uses population genetics theory to analyze deep mutational scanning (DMS) data. This new approach overcomes challenges of variability between experiments, offering more consistent results across different conditions. Whether dealing with multiple time points or diverse experimental settings, popDMS proves to be a powerful tool for understanding the functional effects of genetic mutations. #ComputationalBiology #GeneticsResearch Read more: https://lnkd.in/eUyNMQqe

Genetic basis of tail-loss in humans A genetic change in our ancient ancestors may partly explain why humans don’t have tails like monkeys, finds a new study. Published as the cover story of the journal Nature, the work compared the DNA of tail-less apes and humans to that of tailed monkeys, and found an insertion of DNA shared by apes and humans, but missing in monkeys. When the research team engineered a series of mice to examine whether the insertion, in a gene called TBXT, affected their tails, they found a variety of tail effects, including some mice born without tails. Remarkably, say the study authors, the new study found that the differences in tails came not from TBXT mutations, but instead from the insertion of a DNA snippet called AluY into the gene’s regulatory code in the ancestors of apes and humans. #ScienceMission #sciencenewshighlights https://lnkd.in/ggs6XEnx

Building genome assemblies is crucial for understanding the full diversity of the genomic landscape. Pangenome technology helps us see the variations within these assemblies, transforming the fields of genomics and clinical genomics. #pangenome #genome

After lots and lots of hard work, by Xingbo Wu, we are happy to share the latest resources for Hydrangea including genome sequence and gene information about two important flowering traits. Multiple high-quality genomes are really enabling a whole new level of science and challenging previous beliefs, as shown by the evolutionary path of the Asterids here.