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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

Next-generation Sequencing

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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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Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

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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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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
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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Updated: Oct 17, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Gene.iobio: an interactive web tool for versatile, clinically-driven variant interrogation and prioritization.

Tonya Di Sera1, Matt Velinder2, Alistair Ward1

  • 1University of Utah, Salt Lake City, UT, USA.

Scientific Reports
|October 14, 2021
PubMed
Summary
This summary is machine-generated.

Gene.iobio is a novel web application for interpreting complex genomic data in clinical diagnostics. This tool offers an intuitive, visual approach to variant interrogation, improving patient care and diagnosis.

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Area of Science:

  • Genomic medicine
  • Clinical diagnostics
  • Bioinformatics tools

Background:

  • Diagnostic medicine is shifting towards comprehensive genomic data utilization.
  • Current tools struggle to interpret complex or uncertain genomic findings from exome and genome sequencing.
  • There is a need for advanced, user-friendly interpretation tools.

Purpose of the Study:

  • To introduce gene.iobio, a real-time, interactive web application for clinical variant interrogation and prioritization.
  • To demonstrate gene.iobio as an improvement over existing methods for genomic data analysis.
  • To empower clinicians with direct interaction with patient genomic data.

Main Methods:

  • Development of gene.iobio, a web application with a visually-driven analysis environment.
  • Real-time, interactive variant interrogation and prioritization capabilities.
  • Facilitation of sophisticated genomic analyses previously requiring command-line tools.

Main Results:

  • gene.iobio provides a novel and effective approach to genomic data interpretation.
  • The application significantly improves upon existing methods.
  • Clinicians can directly interact with patient genomic data for diagnosis and care.

Conclusions:

  • gene.iobio empowers clinical care providers with intuitive genomic data analysis.
  • The tool facilitates establishing clinical diagnoses and informing patient care.
  • It bridges the gap between complex genomic analyses and clinical application.