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No Slide Title
No Slide Title

... •“Re-sequencing” to detect variation •Sequencing all mRNA to quantitate gene expression •Sequencing all mRNA to identify and quantitate splicing variants •Sequencing all RNA to identify and quantitate ncRNA ...
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... Retrotransposition mechanisms using DNA targets. The COXI gene of strain 1+t20 (top) contains both the donor aI1 intron (hatched) and the 5 848 ectopic site in intron 5 (open rectangle) The mechanism on the left begins with reverse splicing into the ectopic site in double-stranded DNA. Inefficient n ...
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Implications of the Human Genome for Understanding Human
Implications of the Human Genome for Understanding Human

... colocate within gene-rich regions of the genome.1,2 One inference is that the biological role of these Alu sequences, the effects of nucleotide variations within such elements,21 and their ability to mediate recombination events17,18 will be important in understanding their regulatory effects19-21 o ...
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... It is easy to get lost in the details of linkage mapping to identify human disease genes and to forget that the (relatively) simple ideas here only apply to situations where disease is determined principally by mutation of a single gene. Most diseases and behaviors are not likely to be so simple, so ...
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Human genome



The human genome is the complete set of nucleic acid sequence for humans (Homo sapiens), encoded as DNA within the 23 chromosome pairs in cell nuclei and in a small DNA molecule found within individual mitochondria. Human genomes include both protein-coding DNA genes and noncoding DNA. Haploid human genomes, which are contained in germ cells (the egg and sperm gamete cells created in the meiosis phase of sexual reproduction before fertilization creates a zygote) consist of three billion DNA base pairs, while diploid genomes (found in somatic cells) have twice the DNA content. While there are significant differences among the genomes of human individuals (on the order of 0.1%), these are considerably smaller than the differences between humans and their closest living relatives, the chimpanzees (approximately 4%) and bonobos. Humans share 50% of their DNA with bananas.The Human Genome Project produced the first complete sequences of individual human genomes, with the first draft sequence and initial analysis being published on February 12, 2001. The human genome was the first of all vertebrates to be completely sequenced. As of 2012, thousands of human genomes have been completely sequenced, and many more have been mapped at lower levels of resolution. The resulting data are used worldwide in biomedical science, anthropology, forensics and other branches of science. There is a widely held expectation that genomic studies will lead to advances in the diagnosis and treatment of diseases, and to new insights in many fields of biology, including human evolution.Although the sequence of the human genome has been (almost) completely determined by DNA sequencing, it is not yet fully understood. Most (though probably not all) genes have been identified by a combination of high throughput experimental and bioinformatics approaches, yet much work still needs to be done to further elucidate the biological functions of their protein and RNA products. Recent results suggest that most of the vast quantities of noncoding DNA within the genome have associated biochemical activities, including regulation of gene expression, organization of chromosome architecture, and signals controlling epigenetic inheritance.There are an estimated 20,000-25,000 human protein-coding genes. The estimate of the number of human genes has been repeatedly revised down from initial predictions of 100,000 or more as genome sequence quality and gene finding methods have improved, and could continue to drop further. Protein-coding sequences account for only a very small fraction of the genome (approximately 1.5%), and the rest is associated with non-coding RNA molecules, regulatory DNA sequences, LINEs, SINEs, introns, and sequences for which as yet no function has been elucidated.
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