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Impute.me
Impute.me. was an open-source non-profit web application that allowed members of the public to use their data from direct-to-consumer (DTC) genetic tests (including tests from 23andMe and Ancestry.com) to calculate polygenic risk scores (PRS) for complex diseases and cognitive and personality traits. In July 2022, Lasse Folkerson, initiator and operator of impute.me, took the website offline. Impute.me calculates PRSs, which are used to estimate the risk of developing complex diseases from the combined effects of numerous common single nucleotide polymorphisms in the human genome. It is intended for use by people who have obtained genetics data from a direct to consumer genetic testing company. If they upload the files, the uploaded data is expanded into ungenotyped SNPs and the overlap with public GWAS summary statistics used to estimate risk. The data is then subjected to analysis scripts including PRS calculations for approximately 2,000 traits and complex diseases. PRSs a ...
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Polygenic Risk Score
In genetics, a polygenic score (PGS), also called a polygenic risk score (PRS), polygenic index (PGI), genetic risk score, or genome-wide score, is a number that summarizes the estimated effect of many genetic variants on an individual's phenotype, typically calculated as a weighted sum of trait-associated alleles. It reflects an individual's estimated genetic predisposition for a given trait and can be used as a predictor for that trait. In other words, it gives an estimate of how likely an individual is to have a given trait only based on genetics, without taking environmental factors into account. Polygenic scores are widely used in animal breeding and plant breeding (usually termed ''genomic prediction'' or ''genomic selection'') due to their efficacy in improving livestock breeding and crops. In humans, polygenic scores are typically generated from genome-wide association study (GWAS) data. Recent progress in genetics has enabled the creation of polygenic predictors of comple ...
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Polygenic Risk Score
In genetics, a polygenic score (PGS), also called a polygenic risk score (PRS), polygenic index (PGI), genetic risk score, or genome-wide score, is a number that summarizes the estimated effect of many genetic variants on an individual's phenotype, typically calculated as a weighted sum of trait-associated alleles. It reflects an individual's estimated genetic predisposition for a given trait and can be used as a predictor for that trait. In other words, it gives an estimate of how likely an individual is to have a given trait only based on genetics, without taking environmental factors into account. Polygenic scores are widely used in animal breeding and plant breeding (usually termed ''genomic prediction'' or ''genomic selection'') due to their efficacy in improving livestock breeding and crops. In humans, polygenic scores are typically generated from genome-wide association study (GWAS) data. Recent progress in genetics has enabled the creation of polygenic predictors of comple ...
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Web Application
A web application (or web app) is application software that is accessed using a web browser. Web applications are delivered on the World Wide Web to users with an active network connection. History In earlier computing models like client-server, the processing load for the application was shared between code on the server and code installed on each client locally. In other words, an application had its own pre-compiled client program which served as its user interface and had to be separately installed on each user's personal computer. An upgrade to the server-side code of the application would typically also require an upgrade to the client-side code installed on each user workstation, adding to the technical support, support cost and decreasing productivity. In addition, both the client and server components of the application were usually tightly bound to a particular computer architecture and operating system and porting them to others was often prohibitively expensive for ...
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Direct-to-consumer Genetic Testing
Genetic testing, also known as DNA testing, is used to identify changes in DNA sequence or chromosome structure. Genetic testing can also include measuring the results of genetic changes, such as RNA analysis as an output of gene expression, or through biochemical analysis to measure specific protein output. In a medical setting, genetic testing can be used to diagnose or rule out suspected genetic disorders, predict risks for specific conditions, or gain information that can be used to customize medical treatments based on an individual's genetic makeup. Genetic testing can also be used to determine biological relatives, such as a child's biological parentage (genetic mother and father) through DNA paternity testing, or be used to broadly predict an individual's ancestry. Genetic testing of plants and animals can be used for similar reasons as in humans (e.g. to assess relatedness/ancestry or predict/diagnose genetic disorders), to gain information used for selective breeding, or ...
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23andMe
23andMe Holding Co. is a publicly held personal genomics and biotechnology company based in South San Francisco, California. It is best known for providing a direct-to-consumer genetic testing service in which customers provide a saliva sample that is laboratory analysed, using single nucleotide polymorphism genotyping, to generate reports relating to the customer's ancestry and genetic predispositions to health-related topics. The company's name is derived from the 23 pairs of chromosomes in a wild-type human cell. The company had a previously fraught relationship with the United States Food and Drug Administration (FDA) due to its genetic health tests; as of October 2015, DNA tests ordered in the US include a revised health component, per FDA approval. 23andMe has been selling a product with both ancestry and health-related components in Canada since October 2014, and in the UK since December 2014. In 2007, 23andMe became the first company to begin offering autosomal DNA tes ...
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Ancestry
An ancestor, also known as a forefather, fore-elder or a forebear, is a parent or (recursively) the parent of an antecedent (i.e., a grandparent, great-grandparent, great-great-grandparent and so forth). ''Ancestor'' is "any person from whom one is descended. In law, the person from whom an estate has been inherited." Two individuals have a genetic relationship if one is the ancestor of the other or if they share a common ancestor. In evolutionary theory, species which share an evolutionary ancestor are said to be of common descent. However, this concept of ancestry does not apply to some bacteria and other organisms capable of horizontal gene transfer. Some research suggests that the average person has twice as many female ancestors as male ancestors. This might have been due to the past prevalence of polygynous relations and female hypergamy. Assuming that all of an individual's ancestors are otherwise unrelated to each other, that individual has 2''n'' ancestors in the ...
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Homo Sapiens
Humans (''Homo sapiens'') are the most abundant and widespread species of primate, characterized by bipedalism and exceptional cognitive skills due to a large and complex brain. This has enabled the development of advanced tools, culture, and language. Humans are highly social and tend to live in complex social structures composed of many cooperating and competing groups, from families and kinship networks to political states. Social interactions between humans have established a wide variety of values, social norms, and rituals, which bolster human society. Its intelligence and its desire to understand and influence the environment and to explain and manipulate phenomena have motivated humanity's development of science, philosophy, mythology, religion, and other fields of study. Although some scientists equate the term ''humans'' with all members of the genus ''Homo'', in common usage, it generally refers to ''Homo sapiens'', the only extant member. Anatomically mod ...
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Single-nucleotide Polymorphism
In genetics, a single-nucleotide polymorphism (SNP ; plural SNPs ) is a germline substitution of a single nucleotide at a specific position in the genome. Although certain definitions require the substitution to be present in a sufficiently large fraction of the population (e.g. 1% or more), many publications do not apply such a frequency threshold. For example, at a specific base position in the human genome, the G nucleotide may appear in most individuals, but in a minority of individuals, the position is occupied by an A. This means that there is a SNP at this specific position, and the two possible nucleotide variations – G or A – are said to be the alleles for this specific position. SNPs pinpoint differences in our susceptibility to a wide range of diseases, for example age-related macular degeneration (a common SNP in the CFH gene is associated with increased risk of the disease) or nonalcoholic fatty liver disease (a SNP in the PNPLA3 gene is associated with inc ...
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Human Genome
The human genome is a complete set of nucleic acid sequences for humans, encoded as DNA within the 23 chromosome pairs in cell nuclei and in a small DNA molecule found within individual mitochondria. These are usually treated separately as the nuclear genome and the mitochondrial genome. Human genomes include both protein-coding DNA sequences and various types of DNA that does not encode proteins. The latter is a diverse category that includes DNA coding for non-translated RNA, such as that for ribosomal RNA, transfer RNA, ribozymes, small nuclear RNAs, and several types of regulatory RNAs. It also includes promoters and their associated gene-regulatory elements, DNA playing structural and replicatory roles, such as scaffolding regions, telomeres, centromeres, and origins of replication, plus large numbers of transposable elements, inserted viral DNA, non-functional pseudogenes and simple, highly-repetitive sequences. Introns make up a large percentage of non-coding DNA. ...
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Genetic Testing
Genetic testing, also known as DNA testing, is used to identify changes in DNA sequence or chromosome structure. Genetic testing can also include measuring the results of genetic changes, such as RNA analysis as an output of gene expression, or through biochemical analysis to measure specific protein output. In a medical setting, genetic testing can be used to diagnose or rule out suspected genetic disorders, predict risks for specific conditions, or gain information that can be used to customize medical treatments based on an individual's genetic makeup. Genetic testing can also be used to determine biological relatives, such as a child's biological parentage (genetic mother and father) through DNA paternity testing, or be used to broadly predict an individual's ancestry. Genetic testing of plants and animals can be used for similar reasons as in humans (e.g. to assess relatedness/ancestry or predict/diagnose genetic disorders), to gain information used for selective breeding, ...
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YouTube
YouTube is a global online video platform, online video sharing and social media, social media platform headquartered in San Bruno, California. It was launched on February 14, 2005, by Steve Chen, Chad Hurley, and Jawed Karim. It is owned by Google, and is the List of most visited websites, second most visited website, after Google Search. YouTube has more than 2.5 billion monthly users who collectively watch more than one billion hours of videos each day. , videos were being uploaded at a rate of more than 500 hours of content per minute. In October 2006, YouTube was bought by Google for $1.65 billion. Google's ownership of YouTube expanded the site's business model, expanding from generating revenue from advertisements alone, to offering paid content such as movies and exclusive content produced by YouTube. It also offers YouTube Premium, a paid subscription option for watching content without ads. YouTube also approved creators to participate in Google's Google AdSens ...
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Summary Statistics
In descriptive statistics, summary statistics are used to summarize a set of observations, in order to communicate the largest amount of information as simply as possible. Statisticians commonly try to describe the observations in * a measure of location, or central tendency, such as the arithmetic mean * a measure of statistical dispersion like the standard deviation, standard mean absolute deviation * a measure of the shape of the distribution like skewness or kurtosis * if more than one variable is measured, a measure of correlation and dependence, statistical dependence such as a Pearson product-moment correlation coefficient, correlation coefficient A common collection of order statistics used as summary statistics are the five-number summary, sometimes extended to a seven-number summary, and the associated box plot. Entries in an analysis of variance table can also be regarded as summary statistics. Examples Location Common measures of location, or central tendency, are ...
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