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    Genome projects 5W1H: What, where, when, why, how and in which population?
    (Refik Saydam National Public Health Agency (RSNPHA) turkhijyen@rshm.gov.tr, 2014) Fidanoğlu, Pelin; Belder, Nevin; Doğanay Erdoğan, Beyza; Ilk, Ozlem; Rajabli, Farid; Özdağ, Hil?al
    Genome projects aim to decode an organism's complete set of deoxyribonucleic acid (DNA), which can be described as the living code of organism. The idea of the Human Genome Project (HGP) was conceived in the early 1980s. The project was started at 1990 and finished at 2003. The sequencing of the whole human genome derived from the DNA of several anonymous volunteers, costed 3.8 billion dollars. In order to annotate the genome data, the "topography of the genome" and the anatomy of the genes should have been revealed. For this purpose, genome projects of several model organisms was carried out in parallel with HGP with the aim to identify basic structural components, organizational structure and evolutionarily development of the genome. With the advent of microarray technology in the early 2000s, high-throughput screening of Single Nucleotide Polymorphisms (SNPs) and Copy Number Variations (CNVs) became feasible. After the completion of HGP in 13 years, James D. Watson's genome was sequenced with 1 million dollar budget in just 2 months using next generation sequencing technology. Today a human genome can be sequenced in just one day with the cost of 6.600 USD. In this reviev the HGP which created big expectations especially in medicine will be explained from its start to the present. Then we will summarize the studies paving the road to personalized medicine emphasizing the fact that to reveal the meaning of genomic information, it should become computable. © 2014 Elsevier B.V., All rights reserved.
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    Power Analysis of C-TDT for Small Sample Size Genome-Wide Association Studies by the Joint Use of Case-Parent Trios and Pairs
    (Hindawi Ltd, 2013) Rajabli, Farid; Inan, Gul; Ilk, Ozlem
    In family-based genetic association studies, it is possible to encounter missing genotype information for one of the parents. This leads to a study consisting of both case-parent trios and case-parent pairs. One of the approaches to this problem is permutation-based combined transmission disequilibrium test statistic. However, it is still unknown how powerful this test statistic is with small sample sizes. In this paper, a simulation study is carried out to estimate the power and false positive rate of this test across different sample sizes for a family-based genome-wide association study. It is observed that a statistical power of over 80% and a reasonable false positive rate estimate can be achieved even with a combination of 50 trios and 30 pairs when 2% of the SNPs are assumed to be associated. Moreover, even smaller samples provide high power when smaller percentages of SNPs are associated with the disease.