Top 50 Genetics Research Topics for Written Projects
Immediate clinical use of these advances requires counseling people concerned about disease running in their family, to help them decide about taking a genetic test and to inform them of ways to reduce their disease risk. To help make these decisions, clinicians need to estimate the probability that a person carries a mutation given family history of disease; if this probability is high enough, the clinician may offer genetic testing to the person. Mendelian mutation prediction models are statistical models that estimate this carrier probability based on family history and knowledge of the population prevalence of the mutation and of the penetrance of the mutation probability of disease, given mutation status. This thesis explores and extends Mendelian mutation prediction models in three self-contained papers. First, this thesis explores the effects of misreported family history on the carrier probability estimate by deriving a general mathematical framework and presenting results for BRCAPRO in particular.
Mutation Testing in Software Testing: Mutant Score & Analysis Example
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Singh, Geetanjali Analysis of genetic mutations using a recombinant model of the mammalian pyruvate dehydrogenase complex. PhD thesis, University of Glasgow. The human mitochondrial pyruvate dehydrogenase complex PDC is a vital metabolic assembly that controls the key committed step in aerobic carbohydrate utilisation and energy production and as such is responsible for overall glucose homeostasis in man. Defects in human PDC have been implicated in a wide variety of genetic, metabolic and autoimmune disorders. PDC is a vast molecular machine Mr, MDa composed of multiple copies of 3 distinct enzymes: pyruvate dehydrogenase E1 , dihydrolipoamide acetyltransferase E2 , dihydrolipoamide dehydrogenase E3 and an additional structural protein known as E3-binding protein E3BP.