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Effect size High Rare variants with major effects: linkage approach Common variants with major effects a. What is the general relationship between allele frequency and effect size according to the graph? b. For a multifactorial disease, which of the oval shapes represent the alleles (variants) that are associated with it? Defend your answer. c. Pick another oval shape and give an example of a disease. Defend your answer. Intermediate Low frequency variants with intermediate effects Modest Rare variants with small effects: hard to identify Common variants with small effects: association approach Low Very rare MAF<0.1% Rare 0.1%<MAF<0.5% Low 0.5%<MAF<5% Common MAF>5% Allele frequency Deletion Chromosome 15 in a. What genetic phenomenon is illustrated in this figure? b. Explain why the same deletion leads to two different syndromes as shown in this figure. Be specific. Wild type Angelmann syndrome o Prader-Willi syndrome Lethal Deletion in o
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