Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Related Concept Videos

Evolutionary Relationships through Genome Comparisons

Evolutionary 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...

Genomics

Genomics

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...

Genomic DNA in Eukaryotes

Genomic DNA in Eukaryotes

Eukaryotes have large genomes compared to prokaryotes. To fit their genomes into a cell, eukaryotic DNA is packaged extraordinarily tightly inside the nucleus. To achieve this, DNA is tightly wound around proteins called histones, which are packaged into nucleosomes that are joined by linker DNA and coil into chromatin fibers. Additional fibrous proteins further compact the chromatin, which is recognizable as chromosomes during certain phases of cell division.

Tagging and Fusion Proteins

Tagging and Fusion Proteins

Proteins are involved in several cellular processes and biochemical reactions. Analyzing a specific protein of interest requires it to be isolated from the other proteins in the cell. This is achieved by overexpressing the specific gene in a suitable host to produce large quantities of the target protein. A tag or label is recombined with the gene to produce a fusion protein containing the target protein and the tag. The tags on these fusion proteins can then be used for easy detection and...

Genome-wide Association Studies-GWAS

Genome-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...

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by

Same author

McKittrick-Wheelock Syndrome Caused by Giant Tubulovillous Adenomas With Malignant Transformation: A Case Report.

Case reports in gastrointestinal medicine·2026

Same author

From Molecules to Biomarkers: Nogo Proteins and Receptors in the Early Detection of Type 2 Diabetes Complications: A Systematic Review.

International journal of molecular sciences·2026

Same author

A stretch-responsive fibroblast program promotes epidermal stem cell self-renewal during skin expansion.

Nature communications·2026

Same author

Assessing the contribution of rare variants to congenital heart disease through a large-scale case-control exome study.

NPJ genomic medicine·2026

Same author

Identification of a putative founder effect involving the HACE1:c.1396C>T variant in two Iranian families and review of reported cases.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·2026

Same author

Population differences of chromosome 22q11.2 duplication structure predispose differentially to microdeletion and inversion.

Nature communications·2026

Search research articles

Related Experiment Video

Updated: May 7, 2026

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay (EMSA) and DNA-affinity Precipitation Assay (DAPA)

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay (EMSA) and DNA-affinity Precipitation Assay (DAPA)

Published on: August 21, 2016

eXtasy: variant prioritization by genomic data fusion.

Alejandro Sifrim¹, Dusan Popovic, Leon-Charles Tranchevent

¹1] Department of Electrical Engineering, STADIUS Center for Dynamical Systems, Signal Processing and Data Analytics, KU Leuven, Leuven, Belgium. [2] iMinds Future Health Department, Leuven, Belgium. [3].

|October 1, 2013

Summary

This summary is machine-generated.

Identifying disease-causing mutations from exome sequencing data is challenging. We developed eXtasy, a novel approach that prioritizes nonsynonymous single-nucleotide variants (nSNVs) to improve the prediction of genetic disorders.

More Related Videos

Oncogenic Gene Fusion Detection Using Anchored Multiplex Polymerase Chain Reaction Followed by Next Generation Sequencing

Oncogenic Gene Fusion Detection Using Anchored Multiplex Polymerase Chain Reaction Followed by Next Generation Sequencing

Published on: July 5, 2019

Related Experiment Videos

Last Updated: May 7, 2026

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay (EMSA) and DNA-affinity Precipitation Assay (DAPA)

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay (EMSA) and DNA-affinity Precipitation Assay (DAPA)

Published on: August 21, 2016

Oncogenic Gene Fusion Detection Using Anchored Multiplex Polymerase Chain Reaction Followed by Next Generation Sequencing

Oncogenic Gene Fusion Detection Using Anchored Multiplex Polymerase Chain Reaction Followed by Next Generation Sequencing

Published on: July 5, 2019

Area of Science:

Genomics
Medical Genetics
Bioinformatics

Background:

Massively parallel sequencing accelerates the discovery of novel disease genes for Mendelian and oligogenic disorders.
Distinguishing pathogenic mutations from benign variants in individual genomes remains a significant challenge in genetic diagnostics.

Purpose of the Study:

To introduce eXtasy, a computational approach designed to enhance the prioritization of disease-causing variants.
To improve the accuracy of identifying pathogenic nonsynonymous single-nucleotide variants (nSNVs) within exome sequencing data.

Main Methods:

Developed eXtasy, a multi-faceted prioritization strategy.
Integrated variant impact prediction algorithms.
Incorporated haploinsufficiency prediction models.
Utilized phenotype-specific gene prioritization techniques.

Main Results:

eXtasy substantially improves the prediction accuracy of disease-causing variants.
The approach effectively prioritizes nonsynonymous single-nucleotide variants (nSNVs) in exome sequencing datasets.
Demonstrated enhanced ability to identify relevant genetic variants for Mendelian and oligogenic disorders.

Conclusions:

eXtasy offers a powerful new tool for genetic variant interpretation.
The integration of multiple prediction methods enhances the identification of disease-causing mutations.
This approach has significant implications for diagnosing genetic disorders using exome sequencing.