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The Talking Glossary of Genetic Terms is an audio/visual glossary of 256 terms prepared and hosted by the National Human Genome Research Institute in the United States. [1]
The National Human Genome Research Institute(NHGRI) created the Talking Glossary of Genetic Terms to help people without scientific backgrounds understand the terms and concepts used in genetic research. Simply click on the term of interest to open a page with a wealth of information, including the term's pronunciation, audio information, images and additional links to related terms. Students, teachers and parents will find the glossary an easy-to-use, always available learning source on genetics.
— Courtesy: National Human Genome Research Institute [1]
The first version was published in English online in September 1998 by the NHGRI Office of Science Education under the title of "Talking Glossary of Genetics". [2] The Spanish-language version was released 18 months later. [2]
A new multimedia, and significantly updated, version of the English Talking Glossary of Genetics was released by the National Human Genome Research Institute in October, 2009. An identical update of the Spanish-language version was released in October, 2011. In September, 2011, an iPhone App of the English Talking Glossary was released by NHGRI and made available as a free download in the Apple App store. The App version contains all 3-D animations, high quality illustrations, the "Test Your Gene IQ" quiz, and similar user functions such as "Suggest a Term" and "Mail This Term to a Friend."
The original version had been based on simple HTML entries and was developed in the mid-1990s at a time when dial-up modems were commonly used to access the internet at speeds as low as 14.4 kps. That version of the Talking Glossary contained 178 terms and talking explanations of each term, as well as about 70 black-and-white illustrations.
The new, and current, versions of the Talking Glossary featured a substantial visual, content, and functional upgrade to the popular online tool. The new Glossaries are built on a vibrant FLASH-based web design employing colorful pages, clear digital audio files, color illustrations, 3-D animations, a "Test Your Gene IQ" function, real-time applets to "cite a term in a paper", "suggest a term", and "share a term" via email.
The list of terms was expanded to 256 entries. Terms were chosen using a number of metrics including a review of the online usage of the glossary over the previous decade. Some terms were dropped as a result, and a large number of terms were added. Other metrics used to determine terms included a scan of the most commonly used science books in U.S. K-12 classrooms for terms and concepts, review of all terms suggested by users using the glossary term suggestion function, and a scan of public media and scientific publications for terms.
Developing the Talking Glossary:
The Talking Glossary of Genetics is a science learning tool developed by the National Human Genome Research Institute (NHGRI) at the National Institutes of Health (NIH). NHGRI oversaw the NIH's role in the Human Genome Project, the international research effort aimed at mapping the genes in the human body and developing tools for gene discovery.
Many of the Talking Glossary terms are commonly used today in news reports, by researchers and medical professionals, in classrooms and, increasingly, as part of daily conversation.
In this light, the Glossary was designed to enable people without a formal scientific background to better understand the terms and concepts behind genetic research. Special attention has been paid to users who are learning or teaching genetics in the classroom. However, the Glossary is designed to be valuable for a much wider audience including patients, doctors, nurses, parents, and professionals dealing with genetic concepts and terminology, such as judges, lawyers, law enforcement officials, and others.
The process of developing the Talking Glossary began by examining some of the most popular American middle school and high school science textbooks. Genetics-related terms from these textbooks provided the foundation for the Talking Glossary. These terms are associated with biological concepts addressed by the National Science Education Standards and common in high school and college biology courses. Additional terms not found in textbooks were added to the glossary, reflecting the rapid pace of genetic research and its coverage in the media.
Written Definitions:
Each glossary entry has a written definition that has been reviewed for clarity and accuracy by teams of science educators and genetic researchers. All of the definitions were written by the same Ph.D.-level science writer for consistency and accuracy.
Illustrations:
Most terms have professionally drawn illustrations to further explain a meaning or concept, or place them in context of the cell or a similar biological setting as a means to better explain the term. All illustrations are provided by the medical illustrator/artist at the NHGRI to enable continuity and maximize re-use in learning tools such as slide shows. All illustrations are copyright free.
Each illustration can be viewed as a webpage within the glossary or downloaded as a high-quality PDF file or PowerPoint slide.
3–D Animations:
The Glossary contains many terms that are illustrated with 3-D movie animations. The animations have a non-descript musical background and are purposely not narrated to maximize use. These animations may be played alone or simultaneously with the spoken definition of the term. All cellular organelles have animation sequences, as do many key terms such as gene, cell, ACGT, and chromosome.
Spoken Explanations of Glossary Terms:
Each term features a friendly and informative spoken explanation that can be heard on any computer with sound capabilities by clicking on the "Listen" button on each term page. Spoken explanations can be paused at any point for user convenience.
Each speaker comments on, or defines, terms relevant to their personal field of study. For example, leading cancer researchers comment on cancer, genetic counselors explain genetic testing terms, and expert gene hunters tackle the many terms surrounding the search for or mapping of genes. All speakers are actively working in the field, and most work at NHGRI.
The written definition provides a reasonable definition for each term. The spoken definition is not the same as the written definition. Instead, each speaker was asked to provide information different than the written definition that would expand the listener’s understanding of the term. Speakers were also asked to explain the term to the average person, not another scientist. No speaker was allowed to read, all recorded explanations are spontaneous.
How to Pronounce a Term:
Much of the terminology of genetics and biology is unique in its pronunciation. Below each term name is a “Pronunciation” button. Click the button to hear the term spoken. Each term, regardless of its name, is pronounced.
Information On Each Speaker:
A brief biography and photograph of each speaker accompanies terms listed in the glossary. This enables the user to examine the speaker's credentials and learn more about their research interests.
Related Terms:
If either a written or spoken definition uses other Talking Glossary terms in its text or dialogue, these terms appear in the “Related Terms” listing at the bottom of each term page. The related terms list also includes Glossary terms that reviewers of the Glossary felt would be helpful to the user.
“Test Your Gene Knowledge” Quiz:
The Talking Glossary offers a 10-term quiz designed to be both fun and instructional. The quiz can be accessed from every term page in the Glossary. Users can choose to test their knowledge about terms commonly found in K-16 science classrooms or, more generally, in popular news reports or conversation. The quiz randomly chooses terms from the Talking Glossary and asks the user to select a term name to match the definition shown. Hints are available for each question, and at the end of the quiz all users are able to print a "Certificate of Completion" that includes the date the test was taken, number of correct answers, and the user's name. About PDF and PPT Files:
PDF (Portable Document Format) files are high-quality image files that appear and print like the original artwork. These finely detailed illustrations will download quickly and include required fonts. PDF files of Glossary illustrations can be downloaded and saved for later uses, such as overhead transparencies, school reports, or for handouts in class or at a talk or other event. Each PDF file is formatted to print on regular printer paper or standard overhead transparency.
Illustrations are also downloadable as PowerPoint slides. These files can be easily copied and pasted into any existing PowerPoint presentation or can serve as a starting point for a new presentation. These slides are designed to provide lecturers with an easy-to-use and convenient source of illustrations for genetic terms and concepts.
Genetics is the study of genes, genetic variation, and heredity in organisms. It is an important branch in biology because heredity is vital to organisms' evolution. Gregor Mendel, a Moravian Augustinian friar working in the 19th century in Brno, was the first to study genetics scientifically. Mendel studied "trait inheritance", patterns in the way traits are handed down from parents to offspring over time. He observed that organisms inherit traits by way of discrete "units of inheritance". This term, still used today, is a somewhat ambiguous definition of what is referred to as a gene.
In genetics, the phenotype is the set of observable characteristics or traits of an organism. The term covers the organism's morphology, its developmental processes, its biochemical and physiological properties, its behavior, and the products of behavior. An organism's phenotype results from two basic factors: the expression of an organism's genetic code and the influence of environmental factors. Both factors may interact, further affecting the phenotype. When two or more clearly different phenotypes exist in the same population of a species, the species is called polymorphic. A well-documented example of polymorphism is Labrador Retriever coloring; while the coat color depends on many genes, it is clearly seen in the environment as yellow, black, and brown. Richard Dawkins in 1978 and then again in his 1982 book The Extended Phenotype suggested that one can regard bird nests and other built structures such as caddisfly larva cases and beaver dams as "extended phenotypes".
Race is a categorization of humans based on shared physical or social qualities into groups generally viewed as distinct within a given society. The term came into common usage during the 16th century, when it was used to refer to groups of various kinds, including those characterized by close kinship relations. By the 17th century, the term began to refer to physical (phenotypical) traits, and then later to national affiliations. Modern science regards race as a social construct, an identity which is assigned based on rules made by society. While partly based on physical similarities within groups, race does not have an inherent physical or biological meaning. The concept of race is foundational to racism, the belief that humans can be divided based on the superiority of one race over another.
Molecular genetics is a branch of biology that addresses how differences in the structures or expression of DNA molecules manifests as variation among organisms. Molecular genetics often applies an "investigative approach" to determine the structure and/or function of genes in an organism's genome using genetic screens.
Genetic variation is the difference in DNA among individuals or the differences between populations among the same species. The multiple sources of genetic variation include mutation and genetic recombination. Mutations are the ultimate sources of genetic variation, but other mechanisms, such as genetic drift, contribute to it, as well.
In biology, polymorphism is the occurrence of two or more clearly different morphs or forms, also referred to as alternative phenotypes, in the population of a species. To be classified as such, morphs must occupy the same habitat at the same time and belong to a panmictic population.
Forward genetics is a molecular genetics approach of determining the genetic basis responsible for a phenotype. Forward genetics provides an unbiased approach because it relies heavily on identifying the genes or genetic factors that cause a particular phenotype or trait of interest.
The National Human Genome Research Institute (NHGRI) is an institute of the National Institutes of Health, located in Bethesda, Maryland.
In genetics, the term synteny refers to two related concepts:
In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protein-coding genes and non-coding genes. During gene expression, DNA is first copied into RNA. RNA can be directly functional or be the intermediate template for the synthesis of a protein.
The Human Genome Project (HGP) was an international scientific research project with the goal of determining the base pairs that make up human DNA, and of identifying, mapping and sequencing all of the genes of the human genome from both a physical and a functional standpoint. It started in 1990 and was completed in 2003. It remains the world's largest collaborative biological project. Planning for the project began in 1984 by the US government, and it officially launched in 1990. It was declared complete on 14 April 2003, and included about 92% of the genome. Level "complete genome" was achieved in May 2021, with only 0.3% of the bases covered by potential issues. The final gapless assembly was finished in January 2022.
Personal genomics or consumer genetics is the branch of genomics concerned with the sequencing, analysis and interpretation of the genome of an individual. The genotyping stage employs different techniques, including single-nucleotide polymorphism (SNP) analysis chips, or partial or full genome sequencing. Once the genotypes are known, the individual's variations can be compared with the published literature to determine likelihood of trait expression, ancestry inference and disease risk.
The 1000 Genomes Project (1KGP), taken place from January 2008 to 2015, was an international research effort to establish the most detailed catalogue of human genetic variation at the time. Scientists planned to sequence the genomes of at least one thousand anonymous healthy participants from a number of different ethnic groups within the following three years, using advancements in newly developed technologies. In 2010, the project finished its pilot phase, which was described in detail in a publication in the journal Nature. In 2012, the sequencing of 1092 genomes was announced in a Nature publication. In 2015, two papers in Nature reported results and the completion of the project and opportunities for future research.
Francis Sellers Collins is an American physician-scientist who discovered the genes associated with a number of diseases and led the Human Genome Project. He served as director of the National Institutes of Health (NIH) in Bethesda, Maryland, from 17 August 2009 to 19 December 2021, serving under three presidents.
The following outline is provided as an overview of and topical guide to evolution:
Elaine Ann Ostrander is an American geneticist at the National Human Genome Research Institute (NHGRI) of the National Institutes of Health (NIH) in Bethesda, Maryland. She holds a number of professional academic appointments, currently serving as Distinguished and Senior Investigator and head of the NHGRI Section of Comparative Genomics; and Chief of the Cancer Genetics and Comparative Genomics Branch. She is known for her research on prostate cancer susceptibility in humans and for conducting genetic investigations with the Canis familiaris —the domestic dog— model, which she has used to study disease susceptibility and frequency and other aspects of natural variation across mammals. In 2007, her laboratory showed that much of the variation in body size of domestic dogs is due to sequence changes in a single gene encoding a growth-promoting protein.
The GWAS catalog is a free online database that compiles data of genome-wide association studies (GWAS), summarizing unstructured data from different literature sources into accessible high quality data. It was created by the National Human Genome Research Institute (NHGRI) in 2008 and have become a collaborative project between the NHGRI and the European Bioinformatics Institute (EBI) since 2010. As of September 2018, it has included 71,673 SNP–trait associations in 3,567 publications.
Tara Matise is an American geneticist at Rutgers University. Since 2018, she has served as chair of the Department of Genetics. Her research interests span computational genetics, data science, and human genetics. She is co-director of the Rutgers University Genetics Coordinating Center.
Adebowale A. Adeyemo is a Nigerian physician-scientist and genetic epidemiologist specialized in genomics and cardiometabolic disorders. He is the deputy director and chief scientific officer of the Center for Research on Genomics and Global Health at the National Human Genome Research Institute.