Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Gene Evolution - Fast or Slow?02:05

Gene Evolution - Fast or Slow?

8.4K
The genomes of eukaryotes are punctuated by long stretches of sequence which do not code for proteins or RNAs. Although some of these regions do contain crucial regulatory sequences, the vast majority of this DNA serves no known function. Typically, these regions of the genome are the ones in which the fastest change, in evolutionary terms, is observed, because there is typically little to no selection pressure acting on these regions to preserve their sequences.
In contrast, regions which code...
8.4K
Gene Evolution - Fast or Slow?02:05

Gene Evolution - Fast or Slow?

3.8K
3.8K
Evolutionary Relationships through Genome Comparisons02:54

Evolutionary Relationships through Genome Comparisons

7.3K
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...
7.3K
Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

98
Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
98
Genetic Screens02:46

Genetic Screens

5.9K
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...
5.9K
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

20.4K
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,...
20.4K

You might also read

Related Articles

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

Sort by
Same author

Mycobacterium tuberculosis IDH-PPARγ interaction suppresses GPX4 to drive macrophage ferroptosis and sustain persistent infection.

Nature communications·2026
Same author

Single-nucleus analysis reveals human-specific oligodendrocyte polarization and conserved neuronal responses after severe traumatic brain injury.

Nature communications·2026
Same author

Gut microbiota-induced perturbation in bile acids alter keratinocyte lipid metabolism via FXR-NQO1 signaling in psoriasis.

Nature communications·2026
Same author

Expanding the human proteome with microproteins and peptideins.

Nature·2026
Same author

An expanded reference catalog of translated open reading frames for biomedical research.

Nucleic acids research·2026
Same author

Oligonucleotide Selective Detection by Levitated Optomechanics.

ACS nanoscience Au·2026
Same journal

Cap 2'-O-methyltransferase CMTR2 regulates male meiosis independent of its methyltransferase activity.

Nucleic acids research·2026
Same journal

APE1 binds and processes abasic sites present in i-motif DNA and cooperates with PCBP1 in maintenance of telomeric stability.

Nucleic acids research·2026
Same journal

Acquisition of a novel restriction modification system regulates genetic flux and gene expression in the hypervirulent and globally disseminated CC17 lineage of group B Streptococcus.

Nucleic acids research·2026
Same journal

Trans-species microRNAs from the parasitic plant Cuscuta campestris specifically avoid loading onto self Argonautes.

Nucleic acids research·2026
Same journal

Neurochondrin promotes U5 snRNP maturation by regulating AAR2 release from PRPF8.

Nucleic acids research·2026
Same journal

Elongationless start-stop elements are stress-resilient translation gates that are more repressive than uTranslons.

Nucleic acids research·2026
See all related articles

Related Experiment Video

Updated: Apr 19, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

35.1K

EvoTol: a protein-sequence based evolutionary intolerance framework for disease-gene prioritization.

Owen J L Rackham1, Hashem A Shihab2, Michael R Johnson3

  • 1Medical Research Council (MRC) Clinical Sciences Centre, Imperial College London, Hammersmith Hospital, Du Cane Road, London W12 0NN, UK.

Nucleic Acids Research
|January 1, 2015
PubMed
Summary
This summary is machine-generated.

We developed EvoTol, a new framework to find disease-causing genes by analyzing patient genome data. EvoTol identifies genes intolerant to mutations, improving genetic disease discovery.

More Related Videos

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

14.5K
Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

11.5K

Related Experiment Videos

Last Updated: Apr 19, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

35.1K
In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

14.5K
Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

11.5K

Area of Science:

  • Genomics
  • Computational Biology
  • Human Genetics

Background:

  • Interpreting personal genome sequences is crucial for understanding genetic diseases.
  • Existing methods for identifying disease-causing genes have limitations.

Purpose of the Study:

  • To introduce EvoTol, a novel framework for identifying disease-causing genes from patient sequence data.
  • To evaluate EvoTol's performance against existing methods in identifying known disease genes.

Main Methods:

  • Developed EvoTol, a framework quantifying gene intolerance to mutation using evolutionary conservation of protein sequences.
  • Incorporated tissue-specific gene expression data into the EvoTol framework.
  • Applied EvoTol to whole-exome sequence data from epilepsy and congenital heart disease cohorts.

Main Results:

  • EvoTol demonstrated superior performance in identifying known disease-causing genes compared to competing methods.
  • Analysis of the human interactome using EvoTol revealed networks enriched for genes intolerant to protein sequence variation.
  • Identified potential novel polygenic contributions to human diseases.

Conclusions:

  • EvoTol is a powerful and accurate framework for identifying disease-causing genes.
  • The framework enhances the discovery of genetic factors contributing to complex diseases.
  • EvoTol provides insights into the genetic architecture of human diseases.