WEHI (Walter and Eliza Hall Institute of Medical Research)’s Post

Despite representing less than one-quarter of the global population, individuals of European ancestry significantly influence genetics research due to their DNA being predominantly studied. From 2005 to 2018, the majority of genome-wide association studies relied on data primarily sourced from three countries: the United Kingdom, the United States, and Iceland. The 'All of Us' program has enlisted over 750,000 volunteers to share health surveys, medical records, and potentially biological samples for molecular and genetic analysis, if willing. While genetic data from some participants has been accessible to researchers since 2020, the recent update unveils whole genome sequences from nearly 250,000 participants, with half representing non-European backgrounds. #precisionmedicine #diversity #represention #dnasequencing #genomics #allofus https://lnkd.in/d7cuf3qf

Human Genetics and Genomics Advances (HGGA) sat with Sara Azidane Chenlo, in the latest "Inside HGGA" to discuss her recently published paper, “Identification of novel driver risk genes in CNV loci associated with neurodevelopmental disorders. ➡️https://lnkd.in/e5pAxX5r #ASHG #GeneticsDiscoveries #HumanGenetics

Selective interference is the reduction in the spread of advantageous alleles a result genetic linkage. Describe how each of the following is an example of selective interference: Muller's Rachet Ruby-in-the-Rubbish Clonal interference *do not just give definitions, this is an application question* Use the Red Queen Hypothesis to explain how sexual reproduction is adaptive.   DRAFT/STUDY TIPS Introduction In evolutionary biology, selective interference is a crucial phenomenon where the presence of genetic linkage hinders the spread of advantageous alleles across populations. The concept of selective interference plays a key role in understanding how genetic linkage can constrain adaptive evolution, particularly in asexual populations, where recombination does not break up the link between alleles. This interference becomes especially relevant when analyzing phenomena like Muller's Ratchet, Ruby-in-the-Rubbish, and clonal interference, each of which offers insight into the dynamics of selection in genetically linked systems. Furthermore, sexual reproduction, as explained through the Red Queen Hypothesis, provides an adaptive mechanism that helps to mitigate the consequences of selective interference by promoting recombination. This essay will critically discuss how each of these evolutionary mechanisms—Muller’s Ratchet, Ruby-in-the-Rubbish, and clonal interference—serves as examples of selective interference and how sexual reproduction serves as an adaptive response to such constraints through the Red Queen Hypothesis.

What ratios typically result from crosses with single genetic locus? Genetics is a complex field with lots of details to keep straight. But when you get a handle on some key terms and concepts, including the structure of DNA and the laws of inheritance, you can start putting the pieces together for a better understanding of genetics. The Scientific Language of Genetics From chromosomes to DNA to dominant and recessive alleles, learning the language of genetics is equivalent to learning the subject itself. The following key terms are guaranteed to appear frequently in your study of all things genetic: Alleles: Alternative versions of a gene Autosomal chromosome: A non-sex chromosome Chromosome: A linear or circular strand composed of DNA that contains genes Diploid: An organism with two copies of each chromosome DNA: Deoxyribonucleic acid; the molecule that carries genetic information Dominant: An allele or phenotype that completely masks a recessive allele or phenotype Gene: The fundamental unit of heredity; a specific section of DNA within a chromosome that codes for a specific protein Genotype: The genetic makeup of an individual; the allele(s) possessed at a given locus Heterozygote: An individual with two different alleles of a given gene or locus Homozygote: An individual with two identical alleles of a given gene or locus Locus: A specific location on a chromosome Phenotype: The physical characteristics of an individual Recessive: An allele or phenotype that is masked by a dominant allele or phenotype; recessive traits are exhibited only when an individual has two recessive alleles at the same locus or gene Youtube video: https://lnkd.in/dtbGhJUq #nikolaysgeneticslessons

Thanks for the robust first week of registration for the 2024 Bruce Weir Summer Institutes in Statistical Genetics. Just a reminder that there are three new modules this year: Module 4 (May 29May 31): Health Disparities Research Module 10 (June 5 - June 7): Epigenetics and Gene Regulation Module 20 (June 12- June 14): Molecular Evolution https://lnkd.in/engWenJi

Registration is open! We have 3 new modules this year: M4 (May 29 - May 31): Health Disparities Research M10 (June 5 - June 7): Epigenetics and Gene Regulation M 20 (June 12 - June 14): Molecular Evolution https://lnkd.in/eqaMhmvC

Hello everyone I am so glad to share my article about GENETICS.! #snsinstitutions #snsdesignthinkers #designthinking GENETICS Genetics is the scientific study of genes and heredity—of how certain qualities or traits are passed from parents to offspring as a result of changes in DNA sequence. A gene is a segment of DNA that contains instructions for building one or more molecules that help the body work. DNA is shaped like a corkscrew-twisted ladder, called a double helix. The two ladder rails are called backbones, and the rungs are pairs of four building blocks (adenine, thymine, guanine, and cytosine) called bases. The sequences of these bases provide the instructions for building molecules, most of which are proteins. Researchers estimate that humans have about 20,000 genes. All of an organism’s genetic material, including its genes and other elements that control the activity of those genes, is its genome. An organism’s entire genome is found in nearly all of its cells. In human, plant, and animal cells, the genome is housed in a structure called the nucleus. The human genome is mostly the same in all people with just small variations. For more on the human genome, visit the National Human Genome Research Institute’s About Genomics webpage. How are genes inherited? Our DNA, including all of our genes, is stored in chromosomes, structures where proteins wind up DNA tightly so that it fits in the nucleus. Humans typically have 23 pairs of chromosomes in our cells. The two chromosomes in each pair contain the same genes, but they may have different versions of those genes because we inherit one chromosome in each pair from our mother and the other from our father. Reproductive cells—eggs and sperm—randomly receive one chromosome from each of the 23 sets instead of both so that a fertilized egg will contain the 23 pairs needed for typical development. How do genes affect health and disease? Changes in genes can prevent the gene from doing its job the way it normally would. Some differences in DNA, for example, can lead to incorrectly formed proteins that can’t perform their functions. Also, genetic variations can influence how people respond to certain medicines or a person’s likelihood of developing a disease. Because parents pass their genes on to their children, some diseases tend to cluster in families, similar to other inherited traits. In most cases, multiple genes are involved. Researchers can use DNA sequencing to identify variations in a person’s genome. Some variations between individuals result from epigenetic differences. These are changes in gene function, some of which can be inherited but are not the result of changes in DNA sequence.

Human genetic variation research opens the door to further research on past pandemics and their effect on our genes 💬 https://bit.ly/4aFiBtt

Happy to share our recent work on the relationships between evolutionary rate, expression level, and the genetic association of human genes with polygenic traits. Understanding the evolutionary rate of human disease genes is key to knowing the genetic basis of diseases and their evolution over time. This can help us address fundamental questions in evolutionary medicine, like the mechanisms and properties of genes and regulatory networks that maintain disease variants in the population. This is particularly important for polygenic and complex diseases, which result from the contribution of multiple genes. The genetic basis of such diseases is more complex than monogenic diseases, and we often lack a systematic understanding of the evolutionary rate of the genes associated with such diseases. By investigating 4,576 complex human traits, we explored the relationship between genetic correlation, gene expression level, evolutionary rate, and estimates of selection pressure in human genes across a broad spectrum of polygenic traits. Our results demonstrate the presence of a spectrum among complex traits, shaped by natural selection. Notably, at opposite ends of this spectrum, we find metabolic traits being more likely influenced by purifying selection, and immunological traits that are more likely shaped by positive selection. Big thanks to Carlo Maj, Johannes Schumacher, and the nice contributions from our talented PhD students, Ann-Sophie Giel and Jessica Bigge, for making this happen! Additionally, we launched the Polygenic Evolution Portal (www.evopolygen.de) as a resource for exploring these relationships and generating new hypotheses in the field of human polygenic trait evolution. This portal, and others in progress, were beautifully created by the talented ZuKIT start-up team in Marburg (Zukit.de). Their work is fantastic, offering a wide range of services in scientific/technical data web-hosting, visualization, and management. Reach out to them ([email protected]) to bring your data to life!

The new human pangenome could help unveil the biology of everyone. More than 20 years after people got a peek at the first draft of the human genome, our genetic instruction book, researchers have unlocked the next level: the human pangenome. The more complete reference book, which includes almost all the DNA of 47 people, will allow researchers to explore types of variation that could never be examined before, such as large chunks of duplicated, lost or rearranged DNA. That work could possibly reveal more details about the genetic underpinnings of heart diseases, schizophrenia and various other diseases and disorders. The pangenome adds 119 million DNA bases — the information-carrying units of DNA — not present in the existing human genome, called the reference genome. Much of that DNA is in never-before-explored parts of the genome containing multiple copies of genes that are duplicated from originals elsewhere in the DNA. Those duplicated parts are changing faster than nonduplicated portions of the genome, says Evan Eichler, a human geneticist at the University of Washington in Seattle and one of the leaders of the Human Pangenome Reference Consortium. What’s more, when Eichler and colleagues examined the types of variants that arise in these duplicated regions, they found “a very strong signal that the mutations that are occurring are fundamentally different from [mutations in] the rest of the genome,” he says. Some of these duplicated regions include ones implicated in humans’ large brains relative to other species and other traits that set humans apart from other primates. Others have been implicated in certain traits or diseases. Conversely, another study found that the very short arms of certain chromosomes, including chromosomes 13, 14 and 21, are becoming more like each other as they swap DNA. Those short arms are important because they contain genes for making ribosomal RNAs, which serve as the scaffolds for ribosomes, the machinery responsible for building every protein in the body. But perhaps the biggest achievement of the pangenome project is that it is finally giving researchers a more complete look at the full spectrum of human genetic diversity. Source: https://lnkd.in/gJgNajTm