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In genetics and bioinformatics, a single-nucleotide polymorphism is a germline substitution of a single nucleotide at a specific position in the genome that is present in a sufficiently large fraction of the population.
Researchers have investigated the relationship between race and genetics as part of efforts to understand how biology may or may not contribute to human racial categorization.
Research on the heritability of IQ inquires into the degree of variation in IQ within a population that is due to genetic variation between individuals in that population. There has been significant controversy in the academic community about the heritability of IQ since research on the issue began in the late nineteenth century. Intelligence in the normal range is a polygenic trait, meaning that it is influenced by more than one gene, and in the case of intelligence at least 500 genes. Further, explaining the similarity in IQ of closely related persons requires careful study because environmental factors may be correlated with genetic factors.
In genomics, a genome-wide association study, is an observational study of a genome-wide set of genetic variants in different individuals to see if any variant is associated with a trait. GWA studies typically focus on associations between single-nucleotide polymorphisms (SNPs) and traits like major human diseases, but can equally be applied to any other genetic variants and any other organisms.
Gene–environment correlation is said to occur when exposure to environmental conditions depends on an individual's genotype.
Whole genome sequencing (WGS), also known as full genome sequencing, complete genome sequencing, or entire genome sequencing, is the process of determining the entirety, or nearly the entirety, of the DNA sequence of an organism's genome at a single time. This entails sequencing all of an organism's chromosomal DNA as well as DNA contained in the mitochondria and, for plants, in the chloroplast.
Behavioural genetics, also referred to as behaviour genetics, is a field of scientific research that uses genetic methods to investigate the nature and origins of individual differences in behaviour. While the name "behavioural genetics" connotes a focus on genetic influences, the field broadly investigates the extent to which genetic and environmental factors influence individual differences, and the development of research designs that can remove the confounding of genes and environment. Behavioural genetics was founded as a scientific discipline by Francis Galton in the late 19th century, only to be discredited through association with eugenics movements before and during World War II. In the latter half of the 20th century, the field saw renewed prominence with research on inheritance of behaviour and mental illness in humans, as well as research on genetically informative model organisms through selective breeding and crosses. In the late 20th and early 21st centuries, technological advances in molecular genetics made it possible to measure and modify the genome directly. This led to major advances in model organism research and in human studies, leading to new scientific discoveries.
The missing heritability problem is the fact that single genetic variations cannot account for much of the heritability of diseases, behaviors, and other phenotypes. This is a problem that has significant implications for medicine, since a person's susceptibility to disease may depend more on the combined effect of all the genes in the background than on the disease genes in the foreground, or the role of genes may have been severely overestimated.
Terrie Edith Moffitt is an American-British clinical psychologist who is best known for her pioneering research on the development of antisocial behavior and for her collaboration with colleague and partner Avshalom Caspi in research on gene-environment interactions in mental disorders.
Genoeconomics is an interdisciplinary field of protoscience that combines molecular genetics and economics.
Wendy K. Chung is an American clinical and molecular geneticist and physician. She currently directs the clinical genetics program at NewYork–Presbyterian Hospital / Columbia University Medical Center in New York City and serves as the Kennedy Family Professor of Pediatrics. She is the author of 600 peer-reviewed articles and 75 chapters and has won several awards as a physician, researcher, and professor. Chung helped to initiate a new form of newborn screening for spinal muscular atrophy which is used nationally and was among the plaintiffs in the Supreme Court case which banned gene patenting.
Stephen Jacob Chanock is an American physician and geneticist. He currently serves as Director of the Division of Cancer Epidemiology and Genetics at the U.S. National Cancer Institute (NCI).
Benjamin Michael Neale is a statistical geneticist with a specialty in psychiatric genetics. He is an institute member at the Broad Institute as well as an associate professor at both Harvard Medical School and the Analytic and Translational Genetics Unit at Massachusetts General Hospital. Neale specializes in genome-wide association studies (GWAS). He was responsible for the data analysis of the first GWAS on attention-deficit/hyperactivity-disorder, and he developed new analysis software such as PLINK, which allows for whole-genome data to be analyzed for specific gene markers. Related to his work on GWAS, Neale is the lead of the ADHD psychiatric genetics and also a member of the Psychiatric GWAS Consortium analysis committee.
Sarah Anne Tishkoff is an American geneticist and the David and Lyn Silfen Professor in the Department of Genetics and Biology at the University of Pennsylvania. She also serves as a director for the American Society of Human Genetics and is an associate editor at PLOS Genetics, G3, and Genome Research. She is also a member of the scientific advisory board at the David and Lucile Packard Foundation.
In statistical genetics, linkage disequilibrium score regression is a technique that aims to quantify the separate contributions of polygenic effects and various confounding factors, such as population stratification, based on summary statistics from genome-wide association studies (GWASs). The approach involves using regression analysis to examine the relationship between linkage disequilibrium scores and the test statistics of the single-nucleotide polymorphisms (SNPs) from the GWAS. Here, the "linkage disequilibrium score" for a SNP "is the sum of LD r2 measured with all other SNPs".
In behavioral genetics, the Scarr–Rowe effect, also known as the Scarr–Rowe hypothesis, refers to the proposed moderating effect of low socioeconomic status on the heritability of children's IQ. According to this hypothesis, lower socioeconomic status and greater exposure to social disadvantage during childhood leads to a decrease in the heritability of IQ, as compared to children raised in more advantaged environments. It is considered an example of gene–environment interaction. This hypothesized effect was first proposed by Sandra Scarr, who found support for it in a 1971 study of twins in Philadelphia, and these results were replicated by David C. Rowe in 1999. Since then, similar results have been replicated numerous times, though not all replication studies have yielded positive results. A 2015 meta-analysis found that the effect was predominant in the United States while less evident in societies with robust child welfare systems.
Anubha Mahajan is a human genetics researcher whose career has focused on genetic analysis of complex traits, with an emphasis on type 2 diabetes. Mahajan has co-led and led analysis of high-throughput genetic studies as part of large international consortia, such as DIAGRAM, GoT2D, T2D-GENES, and DIAMANTE, that explore the genetic architecture of type 2 diabetes. More recently, she has moved from genetic discovery to utilizing human genetics research to understand the pathophysiological mechanisms that contribute to type 2 diabetes.
David Alexander Cesarini is an associate professor in the Department of Economics & Center for Experimental Social Science at New York University, a Faculty Research Fellow at the National Bureau of Economic Research, as well as affiliated researcher at the Research Institute for Industrial Economics (IFN). He is an empirically oriented economist with interests in social-science genetics, applied microeconomics and behavioral economics—especially known for his research in genoeconomics and the heritability of economic behaviors and attitudes, such as investing decisions and confidence.
Yulia Kovas is a geneticist and psychologist - currently a professor of genetics and psychology at Goldsmiths, University of London, and a visiting professor at UCL, King's College, Sussex and New York universities - in the United Kingdom. Kovas received the British Academy Wiley Prize in Psychology in 2012. Kovas is the director of the International Laboratory for Interdisciplinary Investigations into Individual Differences in Learning at Goldsmiths, and leads the genetically-informative research into individual differences in mathematical ability and achievement as part of the Twins Early Development Study at King's College, London.
The Genetic Lottery: Why DNA Matters for Social Equality is a book by psychologist and behavior geneticist Kathryn Paige Harden, a professor of psychology at the University of Texas at Austin. Published on September 21, 2021, by Princeton University Press, the book argues that human genetic variation needs to be acknowledged in order to create a fair and equal society. She encourages people to conceptualize genetic predispositions to greater socioeconomic status and educational attainment as "genetic luck" rather than "superiority" or individual worth. The book also aims to counter pseudoscientific ideas such as race science and eugenics that have been used to explain and justify social inequalities.
References
- 1 2 Molteni, Megan (2018-07-31). "Are Diplomas in Your DNA?". WIRED. Retrieved 2018-09-26.
- ↑ Zimmer, Carl (2018-07-23). "Years of Education Influenced by Genetic Makeup, Enormous Study Finds". The New York Times. Retrieved 2018-09-26.
- ↑ Yong, Ed (2016-05-11). "The Genetics of Staying in School". The Atlantic. Retrieved 2018-09-26.
- ↑ Kelley, Susan (2013-05-30). "Genetic variants linked to educational attainment". Cornell Chronicle. Retrieved 2018-09-26.
- ↑ "About The SSGAC". SSGAC website. Retrieved 2018-09-26.
