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Genomes 101 - Genomes 101 Introduction to the Genome...

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Genomes 101 Introduction to the Genome Sciences by the ONE, the ONLY, Hunt Willard! 3 billions units of code Only a few million units differ among us ~25,000 genes Infinite variation in: Environment Experience Exposure Chance events What is the extent to which genetics affects disease? Views of the Genome Phenotype (baby picture/physical body) 46 Chromosomes Microarray technology – chopping up DNA and arranging them, green/yellow/red lights (growing in popularity for use b/c it’s organized) Database browsers online, pull up sequences, genes, diseases, variation, and general info 2, 851, 330, 913 bp ( + gaps) 22,287 protein-coding loci (1.9% of genome, missing non-coding genes) 24 Chromosome types: 1-22, X, Y (246 Mb on chr 1 to 47 Mb on chr 21) Variable gene density (~26 genes/Mb on chr 19 and ~7 genes/Mb on chr 21) Genes are not randomly placed on genomes, we don’t understand fully why Everything else (>98%): Introns Inter-genic space Gene ‘deserts’ (what’s there, is it important or is it baggage?) Repetitive DNA The Human Karyotype Even a small chromosome segment contains 5-10 Mb of DNA and dozens to hundreds of genes Gene content is variable B/w and within chromosomes Some regions >100 genes/Mb Gene ‘deserts’, 0 genes/5Mb Implications for ‘normal’ variation Implications for chromosome abnormalities Location matters for expression
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Gene-rich = high expression levels Gene-poor = low expression levels Personalized Signatures of Health of Disease -
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