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Related Concept Videos

Genomics02:02

Genomics

36.9K
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...
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Genetic Screens02:46

Genetic Screens

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Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
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Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which...
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Evolutionary Relationships through Genome Comparisons02:54

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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...
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Genome-wide Association Studies-GWAS01:11

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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...
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Genome Annotation and Assembly03:36

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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.
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GenoREC: A Recommendation System for Interactive Genomics Data Visualization.

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    Genomics analysts struggle to choose the right visualization tools. GenoREC, a new recommendation system, helps them select effective genomics data visualizations for better insights.

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    Area of Science:

    • Bioinformatics
    • Data Visualization
    • Genomics

    Background:

    • Genomics data interpretation relies heavily on visualization tools.
    • Analysts face challenges selecting appropriate visualizations due to numerous options and limited training.
    • Existing recommendation systems lack domain-specific capabilities for genomics.

    Purpose of the Study:

    • To develop GenoREC, a novel visualization recommendation system tailored for genomics.
    • To enable genomics analysts to choose effective visualizations based on data and task descriptions.
    • To present the recommendation model and a web application for user interaction.

    Main Methods:

    • Developed a knowledge-based recommendation model for selecting visualizations.
    • Created a web application for inputting requirements, exploring, and exporting visualizations.
    • Conducted two user studies to evaluate the system's effectiveness.

    Main Results:

    • GenoREC successfully recommends visualizations suited for genomics analysis tasks.
    • Recommendations were accepted by domain experts in user studies.
    • The system assists analysts in making effective visualization choices.

    Conclusions:

    • GenoREC addresses the need for domain-specific visualization recommendations in genomics.
    • The system empowers non-expert analysts to generate better data insights.
    • GenoREC improves the efficiency and effectiveness of genomics data visualization.