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Related Concept Videos

Genomics02:02

Genomics

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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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Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

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A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
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Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

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Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
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Next-generation Sequencing03:00

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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....
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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.
Forward genetic screens
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Genetic Variation01:25

Genetic Variation

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Genetic variation is the diversity in DNA sequences found among individuals of the same species. This diversity is crucial for a species' survival because it helps organisms adapt to environmental changes. Genetic variation begins with fertilization, where an egg and sperm cell merge. Each of these cells carries 23 chromosomes, up to 46 in the fertilized egg. Chromosomes are long DNA strands that contain genes, the basic units of heredity.
Genes exist in different versions called alleles,...
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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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gene.iobio: an interactive web tool for versatile, clinically-driven variant interrogation and prioritization.

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    New genomic sequencing tools are essential for diagnostic medicine as whole exome and genome sequencing become standard. Gene.iobio offers an intuitive, visual web application for analyzing complex genomic data, improving clinical diagnoses and patient care.

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    Area of Science:

    • Genomic medicine
    • Bioinformatics
    • Clinical diagnostics

    Background:

    • Comprehensive genomic data is increasingly used in clinical care, shifting diagnostic medicine practices.
    • The rise of exome and genome sequencing necessitates advanced tools for interpreting complex genomic findings.
    • Multi-disciplinary teams are now evaluating genome-based tests, requiring accessible computational tools for all members.

    Approach:

    • Introduction of gene.iobio, a real-time, interactive web application for variant interrogation and prioritization.
    • Gene.iobio provides a visually-driven analysis environment, departing from traditional text and table formats.
    • The application is designed for users with varying levels of genetic expertise.

    Key Points:

    • Gene.iobio offers an intuitive and interactive platform for analyzing complex genomic data.
    • The tool facilitates direct interaction with patient genomic data for diagnosis and care.
    • It makes sophisticated genomic analyses accessible to clinical care providers.

    Conclusions:

    • Gene.iobio represents a novel and effective approach to genomic data interpretation in clinical settings.
    • The application significantly improves upon existing methods for variant analysis.
    • Adoption of gene.iobio empowers healthcare providers to enhance clinical diagnoses and patient care through genomic insights.