985:. In a Punnett square, the genotypes of the parents are placed on the outside. An uppercase letter is typically used to represent the dominant allele, and a lowercase letter is used to represent the recessive allele. The possible genotypes of the offspring can then be determined by combining the parent genotypes. In the example on the right, both parents are heterozygous, with a genotype of Bb. The offspring can inherit a dominant allele from each parent, making them homozygous with a genotype of BB. The offspring can inherit a dominant allele from one parent and a recessive allele from the other parent, making them heterozygous with a genotype of Bb. Finally, the offspring could inherit a recessive allele from each parent, making them homozygous with a genotype of bb. Plants with the BB and Bb genotypes will look the same, since the B allele is dominant. The plant with the bb genotype will have the recessive trait.
1013:, one from each parent, while males inherit an X chromosome from their mother and a Y chromosome from their father. X-linked dominant conditions can be distinguished from autosomal dominant conditions in pedigrees by the lack of transmission from fathers to sons, since affected fathers only pass their X chromosome to their daughters. In X-linked recessive conditions, males are typically affected more commonly because they are hemizygous, with only one X chromosome. In females, the presence of a second X chromosome will prevent the condition from appearing. Females are therefore carriers of the condition and can pass the trait on to their sons.
974:, who performed experiments with pea plants to determine how traits were passed on from generation to generation. He studied phenotypes that were easily observed, such as plant height, petal color, or seed shape. He was able to observe that if he crossed two true-breeding plants with distinct phenotypes, all the offspring would have the same phenotype. For example, when he crossed a tall plant with a short plant, all the resulting plants would be tall. However, when he self-fertilized the plants that resulted, about 1/4 of the second generation would be short. He concluded that some traits were
1001:
1017:
951:
978:, such as tall height, and others were recessive, like short height. Though Mendel was not aware at the time, each phenotype he studied was controlled by a single gene with two alleles. In the case of plant height, one allele caused the plants to be tall, and the other caused plants to be short. When the tall allele was present, the plant would be tall, even if the plant was heterozygous. In order for the plant to be short, it had to be homozygous for the recessive allele.
769:
756:
54:
1096:
but a separate "B" gene controls hair growth, and a recessive "b" allele causes baldness. If the individual has the BB or Bb genotype, then they produce hair and the hair color phenotype can be observed, but if the individual has a bb genotype, then the person is bald which masks the A gene entirely.
1095:
Epistasis is when the phenotype of one gene is affected by one or more other genes. This is often through some sort of masking effect of one gene on the other. For example, the "A" gene codes for hair color, a dominant "A" allele codes for brown hair, and a recessive "a" allele codes for blonde hair,
924:
from different individuals differ at one DNA base, for example where the sequence AAGCCTA changes to AAGCTTA. This contains two alleles : C and T. SNPs typically have three genotypes, denoted generically AA Aa and aa. In the example above, the three genotypes would be CC, CT and TT. Other types
1125:
Genotyping refers to the method used to determine an individual's genotype. There are a variety of techniques that can be used to assess genotype. The genotyping method typically depends on what information is being sought. Many techniques initially require amplification of the DNA sample, which is
1110:
A polygenic trait is one whose phenotype is dependent on the additive effects of multiple genes. The contributions of each of these genes are typically small and add up to a final phenotype with a large amount of variation. A well studied example of this is the number of sensory bristles on a fly.
900:
Genotype and phenotype are not always directly correlated. Some genes only express a given phenotype in certain environmental conditions. Conversely, some phenotypes could be the result of multiple genotypes. The genotype is commonly mixed up with the phenotype which describes the end result of
1008:
Other conditions are inherited in an autosomal recessive pattern, where affected individuals do not typically have an affected parent. Since each parent must have a copy of the recessive allele in order to have an affected offspring, the parents are referred to as carriers of the condition. In
1882:
962:. The letters B and b represent alleles for colour and the pictures show the resultant flowers. The diagram shows the cross between two heterozygous parents where B represents the dominant allele (purple) and b represents the recessive allele (white).
857:
factors. Not all individuals with the same genotype look or act the same way because appearance and behavior are modified by environmental and growing conditions. Likewise, not all organisms that look alike necessarily have the same genotype.
1133:
Some techniques are designed to investigate specific SNPs or alleles in a particular gene or set of genes, such as whether an individual is a carrier for a particular condition. This can be done via a variety of techniques, including
1009:
autosomal conditions, the sex of the offspring does not play a role in their risk of being affected. In sex-linked conditions, the sex of the offspring affects their chances of having the condition. In humans, females inherit two
1028:, meaning not all individuals with the disease-causing allele develop signs or symptoms of the disease. Penetrance can also be age-dependent, meaning signs or symptoms of disease are not visible until later in life. For example,
848:
is exclusively determined by genotype. The petals can be purple or white depending on the alleles present in the pea plant. However, other traits are only partially influenced by genotype. These traits are often called
1032:
is an autosomal dominant condition, but up to 25% of individuals with the affected genotype will not develop symptoms until after age 50. Another factor that can complicate
Mendelian inheritance patterns is variable
996:
dominant pattern, meaning individuals with the condition typically have an affected parent as well. A classic pedigree for an autosomal dominant condition shows affected individuals in every generation.
829:. In diploid species like humans, two full sets of chromosomes are present, meaning each individual has two alleles for any given gene. If both alleles are the same, the genotype is referred to as
1063:
For some traits, neither allele is completely dominant. Heterozygotes often have an appearance somewhere in between those of homozygotes. For example, a cross between true-breeding red and white
1912:
1731:
821:
or variants an individual carries in a particular gene or genetic location. The number of alleles an individual can have in a specific gene depends on the number of copies of each
897:
To distinguish the source of an observer's knowledge (one can know about genotype by observing DNA; one can know about phenotype by observing outward appearance of an organism).
1081:
in humans, where both the A and B alleles are expressed when they are present. Individuals with the AB genotype have both A and B proteins expressed on their red blood cells.
913:), Pp (heterozygous), and pp (homozygous recessive). All three have different genotypes but the first two have the same phenotype (purple) as distinct from the third (white).
1146:
can also be used to look for duplications or deletions of genes or gene sections. Other techniques are meant to assess a large number of SNPs across the genome, such as
1240:
1219:
840:, the observable traits and characteristics in an individual or organism. The degree to which genotype affects phenotype depends on the trait. For example, the
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1318:
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1261:
1199:
1966:
Caron, Nicholas S.; Wright, Galen EB; Hayden, Michael R. (1993), Adam, Margaret P.; Ardinger, Holly H.; Pagon, Roberta A.; Wallace, Stephanie E. (eds.),
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1605:
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1181:
In linear models, the genotypes can be encoded in different manners. Let us consider a biallelic locus with two possible alleles, encoded by
1077:
Codominance refers to traits in which both alleles are expressed in the offspring in approximately equal amounts. A classic example is the
936:
Penetrance is the proportion of individuals showing a specified genotype in their phenotype under a given set of environmental conditions.
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both the genetic and the environmental factors giving the observed expression (e.g. blue eyes, hair color, or various hereditary diseases).
800:
90:
2112:
1998:
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1507:
2138:"The Evolution of Epistasis and Its Links With Genetic Robustness, Complexity and Drift in a Phenotypic Model of Adaptation"
706:
487:
2377:
1037:, in which individuals with the same genotype show different signs or symptoms of disease. For example, individuals with
701:
2230:"The genetic basis of quantitative variation: numbers of sensory bristles of Drosophila melanogaster as a model system"
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890:
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to assess for large duplications or deletions in the chromosome. More detailed information can be determined using
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1135:
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1151:
905:
A simple example to illustrate genotype as distinct from phenotype is the flower colour in pea plants (see
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1024:
Mendelian patterns of inheritance can be complicated by additional factors. Some diseases show incomplete
889:
Any given gene will usually cause an observable change in an organism, known as the phenotype. The terms
1111:
These types of additive effects is also the explanation for the amount of variation in human eye color.
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1055:
Many traits are not inherited in a
Mendelian fashion, but have more complex patterns of inheritance.
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786:
69:
17:
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31:
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of an organism is its complete set of genetic material. Genotype can also be used to refer to the
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297:
2199:. Michaelis, Arnd,, Green, Melvin M. (4th completely rev. ed.). Berlin: Springer-Verlag.
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8:
1169:, which provides the specific sequence of all DNA in the coding region of the genome, or
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1975:
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1528:
1523:
Alberts B, Bray D, Hopkin K, Johnson A, Lewis J, Raff M, Roberts K, Walter P (2014).
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Large-scale techniques to assess the entire genome are also available. This includes
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181:
2113:"Genetic Dominance: Genotype-Phenotype Relationships | Learn Science at Scitable"
1999:"Genetic Dominance: Genotype-Phenotype Relationships | Learn Science at Scitable"
1827:
627:
592:
2334:
2295:
2153:
1943:"Phenotype Variability: Penetrance and Expressivity | Learn Science at Scitable"
1863:
1762:
966:
Traits that are determined exclusively by genotype are typically inherited in a
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157:
27:
Part of the genetic makeup of a cell which determines one of its characteristics
1550:
Oversigt Birdy over Det
Kongelige Danske Videnskabernes Selskabs Forhandlingerm
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1967:
1684:"Gregor Mendel and the Principles of Inheritance | Learn Science at Scitable"
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because they are influenced by additional factors, such as environmental and
833:. If the alleles are different, the genotype is referred to as heterozygous.
562:
457:
347:
322:
317:
1862:
Alliance, Genetic; Health, District of
Columbia Department of (2010-02-17).
1761:
Alliance, Genetic; Health, District of
Columbia Department of (2010-02-17).
1708:"12.1 Mendel's Experiments and the Laws of Probability – Biology | OpenStax"
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Here the relation between genotype and phenotype is illustrated, using a
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Gros, Pierre-Alexis; Nagard, Hervé Le; Tenaillon, Olivier (2009-05-01).
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or conditions in humans or animals. Some conditions are inherited in an
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Schönbach, Christian; Ranganathan, Shoba; Nakai, Kenta, eds. (2018).
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933:, can have more than two alleles, and thus many different genotypes.
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Glossary of genetics and cytogenetics : classical and molecular
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pattern. These laws of inheritance were described extensively by
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45:
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Johannsen W (1903). "Om arvelighed i samfund og i rene linier".
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217:
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Vallente, R. U., PhD. (2020). Single
Nucleotide Polymorphism.
1883:"4.4.1: Inheritance patterns for X-linked and Y-linked genes"
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to correspond to the dominant allele to the reference allele
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to determine the number of chromosomes an individual has and
1020:
An example of a pedigree for an autosomal recessive condition
213:
53:
1602:
which was rewritten, enlarged and translated into German as
1527:(4th ed.). New York, NY: Garland Science. p. 659.
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An example of a pedigree for an autosomal dominant condition
2336:
Educational
Materials – Genetic Testing: Current Approaches
133:
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921:
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1522:
1563:(in German). Jena: Gustav Fischer. 1903. Archived from
916:
A more technical example to illustrate genotype is the
1327:
1303:
1279:
1263:. The following table details the different encoding.
1249:
1187:
920:
or SNP. A SNP occurs when corresponding sequences of
1228:
1207:
1865:
Classic
Mendelian Genetics (Patterns of Inheritance)
1764:
Classic
Mendelian Genetics (Patterns of Inheritance)
2333:Wallace, Stephanie E.; Bean, Lora JH (2020-06-18).
2135:
1974:, Seattle (WA): University of Washington, Seattle,
30:For a non-technical introduction to the topic, see
1561:"Erblichkeit in Populationen und in reinen Linien"
1336:
1312:
1288:
1255:
1234:
1213:
1193:
988:These inheritance patterns can also be applied to
1965:
1649:(3rd ed.). Oxford: Oxford University Press.
1610:(in German). Jena: Gustav Fischer. Archived from
2384:
2284:"Molecular Diagnostics in Personalized Medicine"
2192:
1144:multiplex ligation-dependent probe amplification
1644:
1150:. This type of technology is commonly used for
1861:
1760:
2282:Jain, Kewal K. (2015), Jain, Kewal K. (ed.),
1451:"What is genotype? What is phenotype? – pgEd"
794:
1044:
1041:can have a variable number of extra digits.
909:). There are three available genotypes, PP (
2332:
1826:. Andrew P. Read (5th ed.). New York:
981:One way this can be illustrated is using a
825:found in that species, also referred to as
2290:, New York, NY: Springer, pp. 35–89,
1596:: CS1 maint: location missing publisher (
801:
787:
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958:, for the character of petal colour in a
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949:
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893:are distinct for at least two reasons:
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1607:Elemente der exakten Erblichkeitslehre
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2339:. University of Washington, Seattle.
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1913:"14.2: Penetrance and Expressivity"
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1633:Salem Press Encyclopedia of Science
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24:
2084:10.1016/b978-0-12-374984-0.00278-3
2076:Brenner's Encyclopedia of Genetics
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2039:10.1016/b978-0-12-374984-0.00784-1
2031:Brenner's Encyclopedia of Genetics
2015:
1991:
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2354:. Elsevier Science. p. 174.
2288:Textbook of Personalized Medicine
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1580:Arvelighedslærens elementer horse
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2228:Mackay, T. F. (December 1995).
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1959:
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1152:genome-wide association studies
1136:allele specific oligonucleotide
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1586:] (in Danish). Copenhagen.
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1500:Genetics A Conceptual Approach
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1467:
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1417:Genotype–phenotype distinction
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918:single-nucleotide polymorphism
13:
1:
2246:10.1016/s0168-9525(00)89154-4
1645:Allaby, Michael, ed. (2009).
1437:
1114:
2078:, Elsevier, pp. 63–64,
2033:, Elsevier, pp. 58–60,
1502:. NY, New York: Macmillian.
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878:
7:
2296:10.1007/978-1-4939-2553-7_2
2154:10.1534/genetics.108.099127
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10:
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29:
2193:Rieger, Rigomar. (1976).
1576:. Also see his monograph
1498:Pierce, Benjamin (2020).
1069:results in pink flowers.
1051:Non-Mendelian inheritance
1045:Non-Mendelian inheritance
707:List of unsolved problems
1823:Human molecular genetics
1584:The Elements of Heredity
836:Genotype contributes to
702:List of research methods
32:Introduction to genetics
2025:Frizzell, M.A. (2013),
1784:"Mendelian Inheritance"
1647:A dictionary of zoology
1171:whole genome sequencing
1163:chromosomal microarrays
173:Response to environment
2398:Polymorphism (biology)
2027:"Incomplete Dominance"
1732:"3.6: Punnett Squares"
1525:Essential Cell Biology
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1079:ABO blood group system
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891:genotype and phenotype
692:List of biology awards
298:Biological engineering
1820:Strachan, T. (2018).
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2378:Genetic nomenclature
1968:"Huntington Disease"
1604:Johannsen W (1905).
1578:Johannsen W (1905).
1390:Codominant encoding
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1059:Incomplete dominance
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488:Mathematical biology
413:Evolutionary biology
363:Conservation biology
1868:. Genetic Alliance.
1767:. Genetic Alliance.
1376:Recessive encoding
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990:hereditary diseases
911:homozygous dominant
730:Biomedical sciences
388:Ecological genetics
40:Part of a series on
2234:Trends in Genetics
1917:Biology LibreTexts
1887:Biology LibreTexts
1736:Biology LibreTexts
1432:Sequence (biology)
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418:Freshwater biology
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1509:978-1-319-29714-5
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1235:{\displaystyle a}
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1177:Genotype encoding
873:Wilhelm Johannsen
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628:Systems biology
593:Quantum biology
236:
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61:
59:Science of life
35:
28:
23:
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15:
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5:
2416:
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2403:DNA sequencing
2400:
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2372:External links
2370:
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2205:
2185:
2148:(1): 277–293.
2128:
2117:www.nature.com
2104:
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2014:
2003:www.nature.com
1990:
1958:
1947:www.nature.com
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1140:DNA sequencing
1119:Main article:
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1101:
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1089:Main article:
1086:
1083:
1074:
1071:
1060:
1057:
1049:Main article:
1046:
1043:
983:Punnett square
956:Punnett square
944:Main article:
941:
938:
927:genetic marker
903:
902:
898:
883:Main article:
880:
877:
851:complex traits
809:
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483:Marine biology
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293:Bioinformatics
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132:Properties of
127:
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103:Key components
102:
101:
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2073:
2072:"Codominance"
2066:
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2050:
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2019:
2004:
2000:
1994:
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1652:
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1614:on 2009-05-30
1613:
1609:
1608:
1599:
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1581:
1567:on 2009-05-30
1566:
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1555:
1552:(in Danish).
1551:
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1412:Endophenotype
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1011:X chromosomes
1002:
998:
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991:
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979:
977:
973:
972:Gregor Mendel
969:
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957:
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907:Gregor Mendel
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563:Phylogenetics
561:
559:
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458:Human biology
456:
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348:Chronobiology
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324:
323:Biotechnology
321:
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318:Biostatistics
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2287:
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2116:
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2075:
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2002:
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1983:, retrieved
1972:GeneReviews®
1971:
1961:
1950:. Retrieved
1946:
1921:. Retrieved
1919:. 2021-01-13
1916:
1891:. Retrieved
1889:. 2020-06-24
1886:
1864:
1822:
1791:. Retrieved
1787:
1763:
1740:. Retrieved
1738:. 2016-09-21
1735:
1726:
1715:. Retrieved
1712:openstax.org
1711:
1702:
1691:. Retrieved
1687:
1646:
1640:
1632:
1627:
1616:. Retrieved
1612:the original
1606:
1583:
1579:
1569:. Retrieved
1565:the original
1553:
1549:
1543:
1524:
1518:
1499:
1493:
1482:. Retrieved
1478:
1469:
1458:. Retrieved
1454:
1445:
1222:
1180:
1156:
1132:
1124:
1109:
1094:
1076:
1064:
1062:
1054:
1035:expressivity
1023:
1007:
987:
980:
965:
935:
915:
904:
888:
862:
860:
835:
814:
812:
719:Applications
608:Sociobiology
588:Protistology
553:Photobiology
548:Pharmacology
538:Parasitology
533:Paleontology
513:Neuroscience
493:Microbiology
403:Epidemiology
373:Cytogenetics
333:Cell biology
313:Biosemiotics
303:Biomechanics
283:Biogeography
278:Biochemistry
273:Bacteriology
268:Astrobiology
180:
168:Reproduction
131:
58:
1558:German ed.
1159:karyotyping
1073:Codominance
1039:polydactyly
842:petal color
658:Xenobiology
653:Virophysics
623:Systematics
578:Primatology
523:Ornithology
463:Ichthyology
448:Herpetology
443:Gerontology
408:Epigenetics
368:Cryobiology
258:Agrostology
248:Aerobiology
243:Abiogenesis
109:Cell theory
2387:Categories
2311:2021-11-19
2122:2021-11-15
2099:2021-11-15
2054:2021-11-15
2008:2021-11-15
1985:2021-11-19
1952:2021-11-19
1923:2021-11-19
1893:2021-11-15
1846:1083018958
1793:2021-11-15
1788:Genome.gov
1742:2021-11-15
1717:2021-11-15
1693:2021-11-15
1618:2017-07-19
1571:2017-07-19
1484:2021-11-09
1479:Genome.gov
1475:"Genotype"
1460:2020-06-22
1438:References
1148:SNP arrays
1121:Genotyping
1115:Genotyping
1026:penetrance
929:, such as
855:epigenetic
831:homozygous
823:chromosome
643:Toxicology
638:Teratology
583:Proteomics
568:Physiology
508:Neontology
473:Lipidology
468:Immunology
438:Geobiology
398:Embryology
378:Dendrology
308:Biophysics
288:Biogeology
163:Regulation
143:Adaptation
2254:0168-9525
2162:0016-6731
1665:260204631
1592:cite book
1556:: 247–70.
1427:Phenotype
1271:Genotype
1091:Epistasis
1085:Epistasis
994:autosomal
968:Mendelian
960:pea plant
885:Phenotype
879:Phenotype
875:in 1903.
861:The term
846:pea plant
838:phenotype
683:Biologist
558:Phycology
543:Pathology
528:Osteology
518:Nutrition
478:Mammalogy
453:Histology
124:Phylogeny
119:Evolution
114:Ecosystem
18:Genotypic
2393:Genetics
2180:19279327
2142:Genetics
1980:20301482
1455:pged.org
1406:See also
1106:Polygene
976:dominant
870:botanist
863:genotype
815:genotype
774:Category
740:Pharming
677:Research
648:Virology
633:Taxonomy
573:Pomology
503:Mycology
433:Genomics
428:Genetics
253:Agronomy
235:Branches
222:Protists
201:Bacteria
186:Kingdoms
91:timeline
80:Glossary
2262:8533161
2215:2202589
2171:2674823
819:alleles
663:Zoology
393:Ecology
263:Anatomy
210:Animals
206:Eukarya
196:Archaea
188:of life
182:Domains
87:History
75:Outline
46:Biology
2358:
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867:Danish
827:ploidy
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328:Botany
218:Plants
153:Growth
1582:[
844:in a
687:list)
214:Fungi
158:Order
70:Index
2356:ISBN
2300:ISBN
2258:PMID
2250:ISSN
2211:OCLC
2201:ISBN
2176:PMID
2158:ISSN
2088:ISBN
2043:ISBN
1976:PMID
1842:OCLC
1832:ISBN
1661:OCLC
1651:ISBN
1598:link
1529:ISBN
1504:ISBN
1399:1,0
1396:0,1
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1201:and
813:The
184:and
134:life
2292:doi
2242:doi
2166:PMC
2150:doi
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2035:doi
1128:PCR
925:of
922:DNA
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