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Haseman–Elston Regression
In statistical genetics, Haseman–Elston (HE) regression is a form of statistical regression originally proposed for linkage analysis of quantitative traits for sibling relationship, sibling pairs. It was first developed by Joseph K. Haseman and Robert C. Elston in 1972. A much earlier source of sib-pair linkage implementation was, in 1935 and 1938, proposed by Lionel_Penrose, Lionel S. Penrose, who is father of Nobel laureate theoretical physicist Roger Penrose. In 2000, Elston et al. proposed a "revisited", extended form of Haseman–Elston regression. Since then, further extensions to the "revisited" form of HE regression have been proposed. Although HE regression "...seems a rusty weapon in the genomics analysis armory of the GWAS era. This is because the HE regression relies on relatedness measured on identity by descent, IBD but not identity by state (IBS)...", HE has been adapted for association analysis in unrelated samples, whose relatedness is measured in IBS. References< ...
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Statistical Genetics
Statistical genetics is a scientific field concerned with the development and application of statistical methods for drawing inferences from genetic data. The term is most commonly used in the context of human genetics. Research in statistical genetics generally involves developing theory or methodology to support research in one of three related areas: *population genetics - Study of evolutionary processes affecting genetic variation between organisms *genetic epidemiology - Studying effects of genes on diseases *quantitative genetics - Studying the effects of genes on 'normal' phenotypes Statistical geneticists tend to collaborate closely with geneticists, molecular biologists, clinicians and bioinformaticians. Statistical genetics is a type of computational biology Computational biology refers to the use of data analysis, mathematical modeling and computational simulations to understand biological systems and relationships. An intersection of computer science, biology, ...
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Statistical Regression
Statistics (from German: ''Statistik'', "description of a state, a country") is the discipline that concerns the collection, organization, analysis, interpretation, and presentation of data. In applying statistics to a scientific, industrial, or social problem, it is conventional to begin with a statistical population or a statistical model to be studied. Populations can be diverse groups of people or objects such as "all people living in a country" or "every atom composing a crystal". Statistics deals with every aspect of data, including the planning of data collection in terms of the design of surveys and experiments.Dodge, Y. (2006) ''The Oxford Dictionary of Statistical Terms'', Oxford University Press. When census data cannot be collected, statisticians collect data by developing specific experiment designs and survey samples. Representative sampling assures that inferences and conclusions can reasonably extend from the sample to the population as a whole. An exp ...
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Linkage Analysis
Genetic linkage is the tendency of DNA sequences that are close together on a chromosome to be inherited together during the meiosis phase of sexual reproduction. Two genetic markers that are physically near to each other are unlikely to be separated onto different chromatids during chromosomal crossover, and are therefore said to be more ''linked'' than markers that are far apart. In other words, the nearer two genes are on a chromosome, the lower the chance of recombination between them, and the more likely they are to be inherited together. Markers on different chromosomes are perfectly ''unlinked'', although the penetrance of potentially deleterious alleles may be influenced by the presence of other alleles, and these other alleles may be located on other chromosomes than that on which a particular potentially deleterious allele is located. Genetic linkage is the most prominent exception to Gregor Mendel's Law of Independent Assortment. The first experiment to demonstrate l ...
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Quantitative Trait
Complex traits, also known as quantitative traits, are traits that do not behave according to simple Mendelian inheritance laws. More specifically, their inheritance cannot be explained by the genetic segregation of a single gene. Such traits show a continuous range of variation and are influenced by both environmental and genetic factors. Compared to strictly Mendelian traits, complex traits are far more common, and because they can be hugely polygenic, they are studied using statistical techniques such as QTL mapping rather than classical genetics methods. Examples of complex traits include height, circadian rhythms, enzyme kinetics, and many diseases including diabetes and Parkinson's disease. One major goal of genetic research today is to better understand the molecular mechanisms through which genetic variants act to influence complex traits. History When Mendel’s work on inheritance was rediscovered in 1900, scientists debated whether Mendel’s laws could account for t ...
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Sibling Relationship
Siblings play a unique role in one another's lives that simulates the companionship of parents as well as the influence and assistance of friends. Because siblings often grow up in the same household, they have a large amount of exposure to one another, like other members of the immediate family. However, though a sibling relationship can have both hierarchical and reciprocal elements, this relationship tends to be more egalitarian and symmetrical than with family members of other generations. Furthermore, sibling relationships often reflect the overall condition of cohesiveness within a family. Siblings normally spend more time with each other during their childhood than they do with parents or anyone else; they trust and cherish each other, so betrayal by one sibling could cause problems for that person physically as well as mentally and emotionally. Sibling relationships are often the longest-lasting relationship in individuals' lives. Cultural differences The content and co ...
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Robert C
The name Robert is an ancient Germanic given name, from Proto-Germanic "fame" and "bright" (''Hrōþiberhtaz''). Compare Old Dutch ''Robrecht'' and Old High German ''Hrodebert'' (a compound of '' Hruod'' ( non, Hróðr) "fame, glory, honour, praise, renown" and ''berht'' "bright, light, shining"). It is the second most frequently used given name of ancient Germanic origin. It is also in use as a surname. Another commonly used form of the name is Rupert. After becoming widely used in Continental Europe it entered England in its Old French form ''Robert'', where an Old English cognate form (''Hrēodbēorht'', ''Hrodberht'', ''Hrēodbēorð'', ''Hrœdbœrð'', ''Hrœdberð'', ''Hrōðberχtŕ'') had existed before the Norman Conquest. The feminine version is Roberta. The Italian, Portuguese, and Spanish form is Roberto. Robert is also a common name in many Germanic languages, including English, German, Dutch, Norwegian, Swedish, Scots, Danish, and Icelandic. It can be ...
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Lionel Penrose
Lionel Sharples Penrose, FRS (11 June 1898 – 12 May 1972) was an English psychiatrist, medical geneticist, paediatrician, mathematician and chess theorist, who carried out pioneering work on the genetics of intellectual disability. Penrose was the Galton professor of eugenics (1945–1963), then professor of human genetics (1963–1965) at University College London, and later emeritus professor. Education Penrose was educated at the Downs School, Colwall and the Quaker Leighton Park School, Reading. On leaving school in 1916, he served, as a conscientious objector, with the Friends' Ambulance Unit/British Red Cross in France until the end of the First World War. He went on to study at St John's College, Cambridge, where he was a Cambridge Apostle. At Cambridge, he gained a first class degree in moral sciences before leaving for Vienna for a year, to study at the psychological department at the University of Vienna. In 1928, he qualified with the conjoint in 1928 at St Th ...
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Roger Penrose
Sir Roger Penrose (born 8 August 1931) is an English mathematician, mathematical physicist, philosopher of science and Nobel Laureate in Physics. He is Emeritus Rouse Ball Professor of Mathematics in the University of Oxford, an emeritus fellow of Wadham College, Oxford, and an honorary fellow of St John's College, Cambridge and University College London. Penrose has contributed to the mathematical physics of general relativity and cosmology. He has received several prizes and awards, including the 1988 Wolf Prize in Physics, which he shared with Stephen Hawking for the Penrose–Hawking singularity theorems, and one half of the 2020 Nobel Prize in Physics "for the discovery that black hole formation is a robust prediction of the general theory of relativity". He is regarded as one of the greatest living physicists, mathematicians and scientists, and is particularly noted for the breadth and depth of his work in both natural and formal sciences. Early life and education ...
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Genomics
Genomics is an interdisciplinary field of biology focusing on the structure, function, evolution, mapping, and editing of genomes. A genome is an organism's complete set of DNA, including all of its genes as well as its hierarchical, three-dimensional structural configuration. In contrast to genetics, which refers to the study of ''individual'' genes and their roles in inheritance, genomics aims at the collective characterization and quantification of ''all'' of an organism's genes, their interrelations and influence on the organism. Genes may direct the production of proteins with the assistance of enzymes and messenger molecules. In turn, proteins make up body structures such as organs and tissues as well as control chemical reactions and carry signals between cells. Genomics also involves the sequencing and analysis of genomes through uses of high throughput DNA sequencing and bioinformatics to assemble and analyze the function and structure of entire genomes. Advances in gen ...
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GWAS
In genomics, a genome-wide association study (GWA study, or GWAS), also known as whole genome association study (WGA study, or WGAS), 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. When applied to human data, GWA studies compare the DNA of participants having varying phenotypes for a particular trait or disease. These participants may be people with a disease (cases) and similar people without the disease (controls), or they may be people with different phenotypes for a particular trait, for example blood pressure. This approach is known as phenotype-first, in which the participants are classified first by their clinical manifestation(s), as opposed to genotype-first. Each pers ...
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Identity By Descent
A DNA segment is identical by state (IBS) in two or more individuals if they have identical nucleotide sequences in this segment. An IBS segment is identical by descent (IBD) in two or more individuals if they have inherited it from a common ancestor without recombination, that is, the segment has the same ancestral origin in these individuals. DNA segments that are IBD are IBS per definition, but segments that are not IBD can still be IBS due to the same mutations in different individuals or recombinations that do not alter the segment. Theory All individuals in a finite population are related if traced back long enough and will, therefore, share segments of their genomes IBD. During meiosis segments of IBD are broken up by recombination. Therefore, the expected length of an IBD segment depends on the number of generations since the most recent common ancestor at the locus of the segment. The length of IBD segments that result from a common ancestor ''n'' generations in ...
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Identity By State
A DNA segment is identical by state (IBS) in two or more individuals if they have identical nucleotide sequences in this segment. An IBS segment is identical by descent (IBD) in two or more individuals if they have inherited it from a common ancestor without recombination, that is, the segment has the same ancestral origin in these individuals. DNA segments that are IBD are IBS per definition, but segments that are not IBD can still be IBS due to the same mutations in different individuals or recombinations that do not alter the segment. Theory All individuals in a finite population are related if traced back long enough and will, therefore, share segments of their genomes IBD. During meiosis segments of IBD are broken up by recombination. Therefore, the expected length of an IBD segment depends on the number of generations since the most recent common ancestor at the locus of the segment. The length of IBD segments that result from a common ancestor ''n'' generations in ...
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