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Mutation or polymorphism?
Mutation or polymorphism?

... A mutation is defined as any change in a DNA sequence away from normal. This implies there is a normal allele that is prevalent in the population and that the mutation changes this to a rare and abnormal variant. In contrast, a polymorphism is a DNA sequence variation that is common in the populatio ...
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Dr Paul Jaschke

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View or print this bulletin in its original format.
View or print this bulletin in its original format.

... Jorge Oksenberg (UCSF). They have established a shared DNA repository, which enables them to gather the large amounts of data necessary to conduct genetics studies. Recently, the IMSGC published a study in which they examined 4,506 SNPs (single nucleotide polymorphisms, i.e., single variations in ge ...
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Array comparative genomic hybridization (array

... Karyotyping versus array-CGH In principle, both karyotyping and arrays are genome-wide technologies which can be used to assess the presence of genomic imbalance such as CNVs. Although they may look like very different technologies, the primary difference between them is in the resolution, which is ...
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...  The comprehensive study of the interactions and functional dynamics of whole sets of genes and their products. (NIAAA, NIH)  A "scaled-up" version of genetics research in which scientists can look at all of the genes in a living creature at the same time. (NIGMS, NIH) ...
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Grand challenges in bioinformatics.

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Introduction to Genomics - Department of Microbiology and Plant
Introduction to Genomics - Department of Microbiology and Plant

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... Functional Genomic- The study of genes, their resulting proteins, and the role played by the proteins the body's biochemical processes. Gene family- A set of genes in one genome all descended from the same ancestral gene. A group of genes that has arisen by duplication of an ancestral gene. The gene ...
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命題標頭紙 - 慈濟大學醫學資訊學系所
命題標頭紙 - 慈濟大學醫學資訊學系所

... 9. A BLAST search yields several hits. Among them, subject A with 95% identity and E-value = 0.1, and subject B with 65% identity and E-value = e-32. Which one is a better hit? Why? (5%) 10. Palindromes are DNA sequences in which the reverse complement is identical to the positive strand, such as GT ...
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dna methylation

... German’s blocked food to the Dutch in the winter of 1944. Calorie consumption dropped from 2,000 to 500 per day for 4.5 million. Children born or raised in this time were small, short in stature and had many diseases including, edema, anemia, diabetes and depression. The Dutch Famine Birth Cohort st ...
dna methylation
dna methylation

... German’s blocked food to the Dutch in the winter of 1944. Calorie consumption dropped from 2,000 to 500 per day for 4.5 million. Children born or raised in this time were small, short in stature and had many diseases including, edema, anemia, diabetes and depression. The Dutch Famine Birth Cohort st ...
About this Book
About this Book

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...  Eukaryotic genes (human, for example) are very hard to predict  Precise and accurate eukaryotic gene prediction is still an open problem • ENSEMBL contains 21,662 genes for the human genome • There may well be more genes than that in the genome, as yet unpredicted ...
The Human Genome
The Human Genome

... If all the DNA in your body was put end to end, it would reach to the sun and back over 600 times (100 trillion times six feet/92 million miles).\ If unwound and tied together, the strands of DNA in one cell would stretch almost six feet but would be only 50 trillionths of an inch wide. It would tak ...
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Whole genome sequencing



Whole genome sequencing (also known as full genome sequencing, complete genome sequencing, or entire genome sequencing) is a laboratory process that determines the complete DNA sequence of an organism's genome at a single time. This entails sequencing all of an organism's chromosomal DNA as well as DNA contained in the mitochondria and, for plants, in the chloroplast.Whole genome sequencing should not be confused with DNA profiling, which only determines the likelihood that genetic material came from a particular individual or group, and does not contain additional information on genetic relationships, origin or susceptibility to specific diseases. Also unlike full genome sequencing, SNP genotyping covers less than 0.1% of the genome. Almost all truly complete genomes are of microbes; the term ""full genome"" is thus sometimes used loosely to mean ""greater than 95%"". The remainder of this article focuses on nearly complete human genomes.High-throughput genome sequencing technologies have largely been used as a research tool and are currently being introduced in the clinics. In the future of personalized medicine, whole genome sequence data will be an important tool to guide therapeutic intervention. The tool of gene sequencing at SNP level is also used to pinpoint functional variants from association studies and improve the knowledge available to researchers interested in evolutionary biology, and hence may lay the foundation for predicting disease susceptibility and drug response.
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