Related Concept Videos
03:36Genome Annotation and Assembly
The genome refers to all of the genetic material in an organism. It can range from a few million base pairs in microbial cells to several billion base pairs in many eukaryotic organisms. Genome assembly refers to the process of taking the DNA sequencing data and putting it all back together in a correct order to create a close representation of the original genome. This is followed by the identification of functional elements on the newly assembled genome, a process called genome annotation.
02:02Genomics
Genomics is the science of genomes: it is the study of all the genetic material of an organism. In humans, the genome consists of information carried in 23 pairs of chromosomes in the nucleus, as well as mitochondrial DNA. In genomics, both coding and non-coding DNA is sequenced and analyzed. Genomics allows a better understanding of all living things, their evolution, and their diversity. It has a myriad of uses: for example, to build phylogenetic trees, to improve productivity and...
02:54Evolutionary Relationships through Genome Comparisons
Genome comparison is one of the excellent ways to interpret the evolutionary relationships between organisms. The basic principle of genome comparison is that if two species share a common feature, it is likely encoded by the DNA sequence conserved between both species. The advent of genome sequencing technologies in the late 20th century enabled scientists to understand the concept of conservation of domains between species and helped them to deduce evolutionary relationships across diverse...
01:11Genome-wide Association Studies-GWAS
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
GWAS does not require the identification of the target gene involved in...
03:00Next-generation Sequencing
The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features.
03:21Genome Size and the Evolution of New Genes
While every living organism has a genome of some kind (be it RNA, or DNA), there is considerable variation in the sizes of these blueprints. One major factor that impacts genome size is whether the organism is prokaryotic or eukaryotic. In prokaryotes, the genome contains little to no non-coding sequence, such that genes are tightly clustered in groups or operons sequentially along the chromosome. Conversely, the genes in eukaryotes are punctuated by long stretches of non-coding sequence.
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Annotating individual human genomes.
Ali Torkamani1, Ashley A Scott-Van Zeeland, Eric J Topol
1The Scripps Translational Science Institute, USA.
Genomics
|August 16, 2011
Summary
Sequencing individual human genomes is becoming routine. Extracting meaningful information from DNA sequence data through variant annotation is crucial for clinical and research applications.
Area of Science:
- Genomics
- Bioinformatics
- Medical Genetics
Background:
- DNA sequencing technologies enable rapid, accurate, and affordable human genome sequencing.
- The clinical utility of individual genome sequencing depends on extracting meaningful biological and phenotypic information from sequence data.
- Genome annotation is essential for advancing individual sequencing projects.
Purpose of the Study:
- To review methods for annotating individual DNA sequence variations.
- To identify limitations in current genomic variant annotation approaches.
- To suggest future research directions for variant annotation.
Main Methods:
- Review of existing DNA sequence variation annotation methods.
- Analysis of the biological and phenotypic impact of genomic variants.
Main Results:
- Current methods for annotating individual sequence variations have limitations.
- Effective annotation is critical for the clinical application of genome sequencing.
- Further research is needed to improve genomic variant annotation.
Conclusions:
- DNA sequencing of individual genomes will likely become a routine clinical, research, and personal tool.
- Advancements in variant annotation are necessary to fully realize the potential of individual genome sequencing.
- Future research should focus on enhancing the accuracy and utility of genomic variant annotation.