3000_2013_2b
... to assume that genes act additively with each other both within and between loci, but of course they may interact to show dominance or epistasis, respectively.” – Hill et al. (2008) PLOS Genetics, showing that additive genetic variance comprises the largest component of genetic variance that contrib ...
... to assume that genes act additively with each other both within and between loci, but of course they may interact to show dominance or epistasis, respectively.” – Hill et al. (2008) PLOS Genetics, showing that additive genetic variance comprises the largest component of genetic variance that contrib ...
Hardy-Weinberg Practice Problems
... 2. The delta – 32 mutation, a recessive gene, gives humans protection from HIV infection. The allele frequency in a town in Sweden is 20%. a. What percent of the population have two copies of the gene and are therefore immune to ...
... 2. The delta – 32 mutation, a recessive gene, gives humans protection from HIV infection. The allele frequency in a town in Sweden is 20%. a. What percent of the population have two copies of the gene and are therefore immune to ...
Definition Hardy-Weinberg Equilibrium p2+2pq + q2= 1 1 + 2q + q2 = 1
... are introduced by a founder effect. Mutation rates and founder effects act along with genetic drift to make certain genetic diseases more common (or rarer) in small, isolated populations than in the world at large. Gene Flow Gene flow refers to the exchange of genes among populations. Because of gen ...
... are introduced by a founder effect. Mutation rates and founder effects act along with genetic drift to make certain genetic diseases more common (or rarer) in small, isolated populations than in the world at large. Gene Flow Gene flow refers to the exchange of genes among populations. Because of gen ...
HGSS Chapters 11 & 12: Modern Gene Hunting (incomplete)
... Linkage and Association We humans are diploid (i.e., we have two copies of a gene), inheriting one chromosome from mother, the other from father. In transmitting a chromosome to an offspring, however, the physical process of recombination (crossing over) results in a chromosome that contains part of ...
... Linkage and Association We humans are diploid (i.e., we have two copies of a gene), inheriting one chromosome from mother, the other from father. In transmitting a chromosome to an offspring, however, the physical process of recombination (crossing over) results in a chromosome that contains part of ...
eskin
... Increasing Power in Association Studies by using Linkage Disequilibrium Structure and Molecular Function as Prior Information ...
... Increasing Power in Association Studies by using Linkage Disequilibrium Structure and Molecular Function as Prior Information ...
The Genetics of Addiction
... patients and 33,250 controls. These deletions are large: the 1q21 deletion spans approximately 1.38 Mb, the one on 15q11.2 approximately 0.47Mb and the one on 15q13.3 approximately 1.57 Mb. P-values (uncorrected for the 66 tests) are from the exact Cochran–Mantel–Haenszel test and are two-sided. Coo ...
... patients and 33,250 controls. These deletions are large: the 1q21 deletion spans approximately 1.38 Mb, the one on 15q11.2 approximately 0.47Mb and the one on 15q13.3 approximately 1.57 Mb. P-values (uncorrected for the 66 tests) are from the exact Cochran–Mantel–Haenszel test and are two-sided. Coo ...
Selection and Speciation
... • Because genetic drift acts more quickly to reduce genetic variation in small populations, undergoing a bottleneck can reduce a population’s genetic variation by a great deal ...
... • Because genetic drift acts more quickly to reduce genetic variation in small populations, undergoing a bottleneck can reduce a population’s genetic variation by a great deal ...
Mendelian Inheritance
... • Haplotype = set of alleles, one each at different loci, inherited from one parent (on same chromosome). • Diplotype = set of genotypes… (genotype pattern) • Phenotype = “what you see”, expression of this genotype. Examples: A/G (marker), “affected” (disease). ...
... • Haplotype = set of alleles, one each at different loci, inherited from one parent (on same chromosome). • Diplotype = set of genotypes… (genotype pattern) • Phenotype = “what you see”, expression of this genotype. Examples: A/G (marker), “affected” (disease). ...
A Look at Personalized Medicine
... Encyclopedia of DNA Elements (ENCODE) project in 2007 Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project. Nature 2007; 447(7146):799-816 ...
... Encyclopedia of DNA Elements (ENCODE) project in 2007 Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project. Nature 2007; 447(7146):799-816 ...
A Look at Personalized Medicine
... Encyclopedia of DNA Elements (ENCODE) project in 2007 Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project. Nature 2007; 447(7146):799-816 ...
... Encyclopedia of DNA Elements (ENCODE) project in 2007 Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project. Nature 2007; 447(7146):799-816 ...
Case report study.
... *Advantages (case report & case series) ; a- Recognition of new disease e.g. AIDS. b- Formulation of hypothesis concerning possible risk factor. *Limitations; a- Based on experience of one or few patients only. b- Lack of comparison group. c- Formulate the hypothesis but can't test it. ...
... *Advantages (case report & case series) ; a- Recognition of new disease e.g. AIDS. b- Formulation of hypothesis concerning possible risk factor. *Limitations; a- Based on experience of one or few patients only. b- Lack of comparison group. c- Formulate the hypothesis but can't test it. ...
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... During meiosis, two chromosomes, one from mom and one from dad, twist around each other Large segments of DNA are exchanged and recombined Gamete is formed, each carries copies from both sides of ...
... During meiosis, two chromosomes, one from mom and one from dad, twist around each other Large segments of DNA are exchanged and recombined Gamete is formed, each carries copies from both sides of ...
Pedigree Problems 1. The pedigree shows the pattern of inheritance
... (c) Give the most likely genotypes for individuals I-2, II-3, and II-6. Use D and d for the alleles of the vampire gene and R and r for the alleles of the werewolf gene. ...
... (c) Give the most likely genotypes for individuals I-2, II-3, and II-6. Use D and d for the alleles of the vampire gene and R and r for the alleles of the werewolf gene. ...
Shown below is a pedigree chart for the inheritance of achondroplasia
... 1. Using D to represent the dominant allele and d to represent the recessive allele, determine the genotypes of the indicated (numbered) individuals. Record your answers next to the circle/rectangle below. Hint: Start by indicating the genotypes of 2, 3, and 7. Next, determine the genotypes of 1 and ...
... 1. Using D to represent the dominant allele and d to represent the recessive allele, determine the genotypes of the indicated (numbered) individuals. Record your answers next to the circle/rectangle below. Hint: Start by indicating the genotypes of 2, 3, and 7. Next, determine the genotypes of 1 and ...
Vincent Klapper Dr. Ely Genetics 303 Revised term paper 11/15/13
... CTLA4, PTPN22, CD40, FCRL3, and ZFAT genes and the prognosis of two types of autoimmune thyroid disorders, Grave’s disease (GD) and Hashimoto’s disease (HD), in an Asian population. These genes have been implicated in autoimmune thyroid disorders in studies by Begovich et al., Kavvoura et al., Sakai ...
... CTLA4, PTPN22, CD40, FCRL3, and ZFAT genes and the prognosis of two types of autoimmune thyroid disorders, Grave’s disease (GD) and Hashimoto’s disease (HD), in an Asian population. These genes have been implicated in autoimmune thyroid disorders in studies by Begovich et al., Kavvoura et al., Sakai ...
slides
... Most SNPs are outside of the protein coding regions 1 SNP every 600 base pairs More than 5 million common SNPs each with frequency 10-‐50% account for the bulk of human DNA sequence difference I ...
... Most SNPs are outside of the protein coding regions 1 SNP every 600 base pairs More than 5 million common SNPs each with frequency 10-‐50% account for the bulk of human DNA sequence difference I ...
cognitive measures (set-shifting)
... To determine how genes associated with AN affect its subphenotypes and treatment outcome. Methods and Procedure DNA and phenotypic data collected from patients Candidate genes genotyped Genetic info combined with phenotypic data diagnoses, BMI treatment course and outcome questionnaires ...
... To determine how genes associated with AN affect its subphenotypes and treatment outcome. Methods and Procedure DNA and phenotypic data collected from patients Candidate genes genotyped Genetic info combined with phenotypic data diagnoses, BMI treatment course and outcome questionnaires ...
A1990DN22700002
... Cudworth A G & Woodrow J C. Evidence for HL-A-[inked genes in ‘juvenile” diabetes mellitus. Brit. Me4i. J. 3:133-5, 1975. [University Deparonent of Medicine. University of Liverpool, England] apparent association of “juvenile” diabetes with B8 and BwtS in the first 50 patients led to a more extended ...
... Cudworth A G & Woodrow J C. Evidence for HL-A-[inked genes in ‘juvenile” diabetes mellitus. Brit. Me4i. J. 3:133-5, 1975. [University Deparonent of Medicine. University of Liverpool, England] apparent association of “juvenile” diabetes with B8 and BwtS in the first 50 patients led to a more extended ...
Wilms tumor suppressor on the X Synonymous yet functional
... interactions. They also apply three-dimensional structural modeling to exclude possible configurations of complexes that appear mutually exclusive and thus narrow the range of possible interactions. Their result is termed the structural interaction network (SIN) and consists of 873 proteins and 1,26 ...
... interactions. They also apply three-dimensional structural modeling to exclude possible configurations of complexes that appear mutually exclusive and thus narrow the range of possible interactions. Their result is termed the structural interaction network (SIN) and consists of 873 proteins and 1,26 ...
Genetic Statement 1 - Asia Pacific Working Group in Inflammatory
... Summary table in: Thia KT, Loftus EV Jr, Sandborn WJ, Yang SK. An update on the epidemiology of inflammatory bowel disease in Asia. Am J Gastroenterol. 2008 Dec;103(12):3167-82. Chua KH, Hilmi I, Ng CC, Eng TL, Palaniappan S, Lee WS, Goh KL. Identification of NOD2/CARD15 mutations in Malaysian patie ...
... Summary table in: Thia KT, Loftus EV Jr, Sandborn WJ, Yang SK. An update on the epidemiology of inflammatory bowel disease in Asia. Am J Gastroenterol. 2008 Dec;103(12):3167-82. Chua KH, Hilmi I, Ng CC, Eng TL, Palaniappan S, Lee WS, Goh KL. Identification of NOD2/CARD15 mutations in Malaysian patie ...
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... Based on these considerations, several existing cancer epidemiology consortia suggested in their protocols to apply two-stage methods instead of fitting GLMMs directly on the overall sample (see [2] for instance), although they still struggle to harmonize exposure variables of interest and potential ...
... Based on these considerations, several existing cancer epidemiology consortia suggested in their protocols to apply two-stage methods instead of fitting GLMMs directly on the overall sample (see [2] for instance), although they still struggle to harmonize exposure variables of interest and potential ...
types of studies in diabetes epidemiology
... Suitable for rare diseases Inexpensive Minimal ethical problems Short study time Small # of subjects Subjects need not volunteer ...
... Suitable for rare diseases Inexpensive Minimal ethical problems Short study time Small # of subjects Subjects need not volunteer ...
Mendel Random? - The Differential Club
... 1. Confounding – Unlike environmental exposure, genetic variants are not generally associated with the wide range of behavioral, social, and physiological factors that can confound associations. – This means that if a genetic variant is used as a proxy for an environmentally modifiable exposure, it ...
... 1. Confounding – Unlike environmental exposure, genetic variants are not generally associated with the wide range of behavioral, social, and physiological factors that can confound associations. – This means that if a genetic variant is used as a proxy for an environmentally modifiable exposure, it ...
Genome-wide association study
In genetic epidemiology, a genome-wide association study (GWA study, or GWAS), also known as whole genome association study (WGA study, or WGAS) or common-variant association study (CVAS), is an examination of many common genetic variants in different individuals to see if any variant is associated with a trait. GWASs typically focus on associations between single-nucleotide polymorphisms (SNPs) and traits like major diseases.These studies normally compare the DNA of two groups of participants: people with the disease (cases) and similar people without (controls). 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 person gives a sample of DNA, from which millions of genetic variants are read using SNP arrays. If one type of the variant (one allele) is more frequent in people with the disease, the SNP is said to be ""associated"" with the disease. The associated SNPs are then considered to mark a region of the human genome which influences the risk of disease. In contrast to methods which specifically test one or a few genetic regions, the GWA studies investigate the entire genome. The approach is therefore said to be non-candidate-driven in contrast to gene-specific candidate-driven studies. GWA studies identify SNPs and other variants in DNA which are associated with a disease, but cannot on their own specify which genes are causal.The first successful GWAS was published in 2005 and investigated patients with age-related macular degeneration. It found two SNPs which had significantly altered allele frequency when comparing with healthy controls. As of 2011, hundreds or thousands of individuals are tested, over 1,200 human GWA studies have examined over 200 diseases and traits, and almost 4,000 SNP associations have been found. Several GWA studies have received criticism for omitting important quality control steps, rendering the findings invalid, but modern publications address these issues. However, the methodology itself still has opponents.