PPT-Genome-wide Association Study

BIOST 2055 04012015 Human Genome and Single Nucleotide Polymorphisms SNPs 23 chromosome pairs 3 billion bases A single nucleotide change between pairs of chromosomes Eg Haplotype1 AAGG. Denovo genome Denovo genome outline outline novogenome from contigs from assembled contigs annotation Denovo genome Denovo genome Reads contig Gene Gene Annotation Gene Annotation Forgene The Plot. Deepak . Purushotham. Hamid Reza . Hassanzadeh. Haozheng. . Tian. Juliette . Zerick. Lavanya. . Rishishwar. Piyush. . Ranjan. Lu Wang. The Outline. The Need & The Requirement. The Options. By Kevin Chen, . Lior. . Pachter. PLoS. Computational Biology, 2005. David Kelley. State of . metagenomics. In July 2005, 9 projects had been completed.. General challenges were becoming apparent. Paper focuses on computational problems. Presented by Karen . Xu. What you need to know. Basic genetic concepts behind GWAS. Genotyping technologies and common study designs . Statistical concepts for GWAS analysis. Replication, interpretation and follow-up of association results. Lecture 1: Introduction. Linkage studies. Traditional approach to identifying genes for human traits and diseases was through linkage.. For . Mendelian. diseases (e.g. Huntington’s disease) there is a clear co-segregation of genetic markers with disease within pedigrees.. Genome: the total number of genes in an individual.. Human Genome- approx. 20,000 genes on the 46 human chromosomes.. Human Genome Project (HGP). Ongoing effort to completely map and sequence our genome.. Nadia Khan, Rick Smith, . and Anna . Kuperman. Epigenetics 2012. Introduction. Most Genome Wide Approaches were adapted from technologies originally developed for detecting methylation at the level of a single gene. Younghun. Han. Department of Epidemiology. UT MD Anderson Cancer Center. Outline. Introduction. GeneABEL. : . GWAA.data. class. Importing data to . GenABEL. Genetic data QC. GWA association analysis. Nelson Freimer. UCLA Center for Neurobehavioral Genetics . What makes a genetic association significant?. Outline. The problem of achieving validated findings in psychiatric genetics. Approaches to genetic mapping and statistical significance. Genomics Lesson 12_1. Ross . Hardison. 4/19/15. 1. Genetic association. The occurrence together in a population, more often than can be readily explained by chance, of two or more traits of which at least one is known to be genetic.. Kesheng Wang, PhD. Department of Biostatistics and Epidemiology. College of Public Health. East Tennessee State University. 2. Outline. Introduction . Alcohol dependence (AD). Genetic study. . Subjects and Methods. T.H. Beaty. FaceBase. Meeting. June 5, 2010. Pittsburgh PA. A bit of background. Both cleft lip with/without cleft palate (CL/P) & cleft palate (CP) show strong familial aggregation. Twin & family studies show clear evidence of genetic control. G-OnRamp Beta Users Workshop. Wilson Leung. 07/2016. Outline. Obtain genome assemblies from NCBI. Transfer . large genomics datasets to Galaxy. Common bioinformatics file formats . D. atatypes in Galaxy. 2017. ggibson.gt@gmail.com. http://www.cig.gatech.edu. Outline. General . overview of association . studies. Sample Results. Three steps to GWAS:. Primary scan. Replication. Fine mapping. Individual Site Score.