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Understanding human genetic variation And, of course, some variation leads to disease Single-gene disorders like cystic fibrosis and Huntington disease We are also learning more about the contribution of genetic variation to more “common” conditions, such as heart disease, cancer, diabetes, and psychiatric disorders like schizophrenia and ...


Background: Many human diseases are known to have a genetic contribution. While genome-wide studies have identified many disease-associated loci, it remains challenging to elucidate causal genes. In contrast, exome sequencing provides an opportunity to identify new disease genes and large-effect variants of clinical relevance. We therefore sought to determine the contribution of rare genetic ...


Genetic variation. Without genetic variation, some of the basic mechanisms of evolutionary change cannot operate. There are three primary sources of genetic variation, which we will learn more about: Mutations are changes in the DNA. A single mutation can have a large effect, but in many cases, evolutionary change is based on the accumulation ...


It finds genetic variation in a gene’s ability to react to chemical signals from the outside. Key takeaway This study reveals a new, previously unknown layer of human genetics: genetic variation in how readily our genes respond to outside signals that turn them on or off.


Variability in drug efficacy and adverse effects are observed in clinical practice. While the extent of genetic variability in classic pharmacokinetic genes is rather well understood, the role of genetic variation in drug targets is typically less studied. Based on 60,706 human exomes from the ExAC dataset, we performed an in-depth computational analysis of the prevalence of functional ...


Let’s just continue to study human genetic variation free of the utterly constraining idea of race. When researchers want to discuss genetic ancestry or biological risks experienced by people in certain locations, they can do so without conflating these human groupings with racial categories. Let’s be clear that genetic variation is an ...


Local adaptations known as “human races” also show very low levels of genetic variation within-and-between populations. Only 10% of the limited human genetic variation is accounted for by differences between populations and this even in comparison to the nearest human relatives, the apes.


Studying African genomes not only fills a gap in the current understanding of human genetic variation, but also reveals new insights into the history of African populations. My colleagues and I, who are all members of the Human Heredity and Health (H3Africa) consortium, contributed to a landmark genetics study .


Genetic Variation in Human Disease: Methods for Discovery and Detection. This webinar is brought to you by the Science/AAAS Custom Publishing Office. Recorded 30 November 2011. Speakers.


It may surprise you to learn that penguins have twice as much genetic variation as humans do. And this subspecies of chimp has more genetic variation than all the humans on earth. Why are humans so similar? Humans haven't been around as long as other animals. We haven't had enough time to develop much variation in our DNA.