PPT-16.6 – Locating and Sequencing Genes

Learning Objectives Recap how DNA probes and DNA hybridisation is used to locate specific genes Learn how the exact order of nucleotides on a strand of DNA can be determined Learn how restriction mapping can be used to determine nucleotide sequences. 4NeoplasticProcessincludesMeSHtermsreferringtocan-cers. SemanticType IntermediateBMeSHTerms G E A Genes,jun 1 Genes,fos 2 Genes,APC 3 Genes,Reporter 4 Genes,Dominant 5 Genes,ras 6 Genes,rel 7 Genes,bc Stefano . Lise. Bioinformatics & Statistical Genetics (BSG) Core. The . Wellcome. Trust Centre for Human Genetics (WTCHG), Oxford. Email: stefano@well.ox.ac.uk. Outline. Human genetic variation in health and disease. Venter et. al (2004). Presented by. Ken . Vittayarukskul. Steven S. White.. Context of the Problem . Evolutionary history is directly tied to microbial genetics. Little is known. Until recently, microbial diversity was measured by PCR amplification and sequencing of only ribosomal genes. BIOS . 6660 . Hung-Chun (James) Yu. Shaikh Lab. 04/28/2014. Human Genetic . Diseases. Penetrance vs . F. requency. Kaiser J. . S. cience. (2012) 338:1016-1017.. Human Genetic . Diseases. Complex Disorder. (very) large datasets. 5/23/17. Goals for the course. Understand how next-generation sequencing technologies are used in biomedical research. Learn how to use publicly available databases/websites to find specific information about genes. On the role of genomic medicine in the practice of neurology, an update. The last 15 years set the stage for . g. enomic medicine. First Human Genome sequencing:. 6 to 8 years. $1 billion. Completed April 14, 2003. A second step is determining the sequence of the gene, or genes, determining the phenotype and understanding how the expression of the genes is regulated at the transcriptional level  . Subsequent steps involve analysis of post-transcriptional events, understanding how the genes fit into metabolic pathways and how these pathways interact with the environment . (very) large datasets. 5/24/18. Goals for the course. Understand how next-generation sequencing technologies are used in biomedical research. Learn how to use publicly available databases/websites to find specific information about genes. Hardison. Genomics 2_1. 3/1/15. 1. Y Chromosome. 3 billion bp = 3 Gb. Chr1 247 Mb. Chr12 132 Mb. Chr22 50 Mb. A human . genome (. male). The . genome. is . all the DNA. in a cell.. All the DNA on all the chromosomes. Knowing how many genes determine a phenotype (Mendelian and/or QTL analysis), and where the genes are located (linkage mapping) is a first step in understanding the genetic basis of a phenotype . A . Laboratory of Personalized Genomic Medicine . Peter L. Nagy M.D., Ph.D. Assistant Professor. Associate Director, Laboratory of Personalized Genomic Medicine. Department of Pathology and Cell Biology. . In the paper, researchers describe the final product of the Human Genome Project, which was the 13year effort to read the information encoded in the human chromosomes that reached its culmination i . Knowing how many genes determine a phenotype (Mendelian and/or QTL analysis), and where the genes are located (linkage mapping) is a first step in understanding the genetic basis of a phenotype . A second step is determining the sequence of the gene (or genes). Igor Ulitsky. “the . branch of genetics that studies organisms in terms of their genomes (their full DNA sequences. )”. Computational genomics in TAU. Ron Shamir’s lab – focus on gene expression and regulatory networks.