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Biology Midterm Exam Review Guide
Biology Midterm Exam Review Guide

... between a color-blind woman and a normal man. Include the genotypes of the parents, the punnett square, and the genotypes and phenotypes of the offspring (including %). ...
PUNNETT SQUARE PRACTICE
PUNNETT SQUARE PRACTICE

... Cystic fibrosis is a genetically transmitted condition in which the body produces excess mucus that clogs lungs and intestines. Persons who are heterozygous (Ff) for cystic fibrosis are carriers. Persons who are homozygous recessive (ff) have the disease. If a person who does not have the disease an ...
What are summary statistics 0 1 0 0 1 0 0 0 1 0 0 0 1 0
What are summary statistics 0 1 0 0 1 0 0 0 1 0 0 0 1 0

... • A new data structure based on the positional Burrows Wheeler Transform to store reference haplotypes • Rapid search algorithm exploring only the most relevant paths through the HMM ...
Genetics Guided Notes
Genetics Guided Notes

... If a disease is ___________________, both parents have to pass on a mutated allele to the offspring o Those who are heterozygous (Aa) are ____________, meaning they have the mutated allele and can pass it on, but are ____________ themselves ...
Hardy-Weinberg Practice Problems
Hardy-Weinberg Practice Problems

... 8. 1 in 1700 US Caucasian newborns have cystic fibrosis. C is the normal allele, dominant over the recessive c. Individuals must be homozygous for the recessive allele to have the disease. What percent of the above population have cystic fibrosis (cc or q2)? 0.059% Assuming a Hardy-Weinberg Equilibr ...
Multilocus Genetics
Multilocus Genetics

... (D) Positions of the CpG island. The approximately 800-bp-long CpG island includes promoter, 5′ UTR, first exon, and a small portion of the first intron. (E) Location of an approximately 3-kb-long segmental duplication. (F) Positions of selected motifs associated with genomic rearrangements in the h ...
Genetics Unit 1 Review
Genetics Unit 1 Review

... ...
powerpoint file
powerpoint file

... Human microsatellite sets for fluorescence-based genome mapping The complete set is an expanded version of that described by Reed et al. (Nature Genetics 1994, 7, 390-395), which has been modified slightly so that the markers can be more easily multiplexed on ABI machines. It consists of 290 marker ...
Penny Lab
Penny Lab

...  Remember that Mom’s genotype is XX and dad’s is XY, so only Dad flips the coin.  Heads = Y, which means the child will be a boy.  Tails = X, which means the child will be a girl.  Write the sex alleles in the first row on your data table. 3. Give your bouncing baby a name! 4. In the “My Genotyp ...
Terauchi, R., Abe, A., Takagi, H., Tamiru, M
Terauchi, R., Abe, A., Takagi, H., Tamiru, M

... identify the very genetic change that is responsible for the phenotypic variation. Two major approaches have been largely employed in genetic association studies. The first is applied to progeny derived from a cross between known parents; therefore, it is most widely used for gene isolation from cro ...
How to catch epistasis: theory and practice - Montefiore
How to catch epistasis: theory and practice - Montefiore

... Step1: For every pair of markers, each multilocus genotype (MLG) is tested for association with a trait against of the group of other MLGs. Basing on this statistics each MLG is classified as “high risk”, “low risk” or “no evidence for risk” (by default risk threshold = 0.1), and than all MLGs of th ...
Please read the following scenario to answer the following question(s).
Please read the following scenario to answer the following question(s).

... 1) Mary has the genotype ______. A) WW B) ww C) Ww D) more information is needed. 2) Janice's genotype is _______. A) Ww B) WW C) ww D) WW or Ww 3) This pedigree supports the fact that widow's peak is due to a dominant allele, because if it were due to a recessive allele and both parents show the re ...
Topic 16.2: Inheritance
Topic 16.2: Inheritance

... Topic 16.2: Inheritance Inheritance and genetic material Part 2 ...
Bio1100Ch14W
Bio1100Ch14W

... • In both of their families’ histories a recessive lethal disorder is present and both John and Carol had brothers who died of the disease. • While neither John and Carol nor their parents have the disease, their parents must have been carriers (Aa x Aa). • John and Carol each have a 2/3 chance of b ...
Matthew_Sigurdson_Final
Matthew_Sigurdson_Final

... 3. The parents are concerned about their daughter’s chance for getting breast cancer. You investigate the genomes of the father, mother and the daughter and provide genetic counseling for the family. (15 points total) A. What is the lifetime risk for breast cancer for the overall population of Europ ...
Male Female vg + b + pr + vg b + pr + vg + b pr + vg b pr + vg + b + pr
Male Female vg + b + pr + vg b + pr + vg + b pr + vg b pr + vg + b + pr

... Define a title for each section – even each paragraph. Use active statements again. Eg. Grant’s disease is a genetic disease that affects breathing The Grant’s disease mutation is on Chromosome 7 A mutation in a potassium pump is linked to Grant’s disease Expression of wild type potassium pump rever ...
Mendel`s low of Independent
Mendel`s low of Independent

... (yyrr). ...
FAQ 2015 HGMD - Frequently Asked Questions
FAQ 2015 HGMD - Frequently Asked Questions

... Additional references are stored in the "Extrarefs" table. The "risk allele" will not always be the same between different literature reports (which will report different phenotypes and functional studies). ...
Genetics problems assignment
Genetics problems assignment

... 8. The fruit pods of peas can be yellow or green. In one of his experiments, Mendel crossed plants that were homozygous for the allele for yellow fruit pods with plants that were homozygous for the allele for green fruit pods. All fruit pods in the F1 generation were green. Which allele is dominant, ...
Disease
Disease

... Concept of Necessary vs. Sufficient Causes provides a theoretical framework for causation of all disease How do we actually assess whether a Risk Factor is indeed Causal ...
Hardy-Weinberg Problems (BSC 1011C)
Hardy-Weinberg Problems (BSC 1011C)

... island where you remain for the rest of your lives. No one else ever comes to this island as it is totally isolated. Two of your friends carry (they are heterozygous) for a particular genetic disease. a. Assuming all the conditions of the Hardy-Weinberg equilibrium are maintained, what will be the p ...
Hardy-Weinberg Equilibrium
Hardy-Weinberg Equilibrium

... p2 (p X p) =frequency of homozygous dominant 2pq= frequency of heterozygotes q2 (q X q) = frequency of homozygous recessive ...
Lecture 4-POSTED-BISC441-2012
Lecture 4-POSTED-BISC441-2012

... Trinucleotide satellite lengths and AR transcriptional activity The androgen receptor gene contains two polymorphic trinucleotide microsatellites in exon 1. The first microsatellite (nearest the 5' end) contains 8 to 60 repetitions of the glutamine codon "CAG" and is thus known as the polyglutamine ...
document
document

... generate product containing SNP – Incubate PCR product with restriction enzyme Hinf1 – Run agarose gel to size fragments after digestion with ...
Day 5: Causes of Microevolution
Day 5: Causes of Microevolution

... 1. Genetic Drift- loss of variation (allele frequencies) due to a sudden environmental act that reduces the population 2. Gene Flow – change in variation (allele frequencies) due to immigration or emigration, movement of individuals into or out of the population 3. Mutation- introduction of a new al ...
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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.
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