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

Evolutionary Relationships through Genome Comparisons02:54

Evolutionary Relationships through Genome Comparisons

6.8K
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...
6.8K
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

15.2K
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...
15.2K
Genomics02:02

Genomics

39.5K
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...
39.5K

You might also read

Related Articles

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

Sort by
Same author

An information content principle explains regulatory patterns of gene expression across human tissues.

Nature communications·2026
Same author

Biomarkers on the Icy Jovian Moons: Can Europa Also Provide Insights into Life's Origin?

Life (Basel, Switzerland)·2026
Same author

Evolution from Composome to RNA Replicase.

Life (Basel, Switzerland)·2026
Same author

Cell-autonomous adaptation: an overlooked avenue of adaptation in human evolution.

Trends in genetics : TIG·2024
Same author

Talin1 dysfunction is genetically linked to systemic capillary leak syndrome.

JCI insight·2024
Same author

Expanding and Enriching the LncRNA Gene-Disease Landscape Using the GeneCaRNA Database.

Biomedicines·2024

Related Experiment Video

Updated: Dec 31, 2025

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA
11:35

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

Published on: August 21, 2016

13.4K

Genome analysis and knowledge-driven variant interpretation with TGex.

Dvir Dahary1, Yaron Golan2, Yaron Mazor2

  • 1Clinical Genetics, LifeMap Sciences Inc., Marshfield, MA, 02050, USA. dvird@lifemapsc.com.

BMC Medical Genomics
|January 1, 2020
PubMed
Summary

TGex is a novel platform for analyzing and interpreting genomic variations, including non-coding variants, to improve rare disease diagnosis. It offers high diagnostic yields and integrates with clinical workflows for efficient genetic testing.

Keywords:
Biomedical knowledgebaseClinical variant interpretation and classificationExome sequencingHamartomatous polyposisNext generation sequencing analysisNon-coding variantsRare genetic diseasesWhole genome sequencing

More Related Videos

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

34.5K
Author Spotlight: Finding New Therapeutic Targets for Malignant Peripheral Nerve Sheath Tumor Through Genome-Scale shRNA Screens
09:33

Author Spotlight: Finding New Therapeutic Targets for Malignant Peripheral Nerve Sheath Tumor Through Genome-Scale shRNA Screens

Published on: August 25, 2023

1.5K

Related Experiment Videos

Last Updated: Dec 31, 2025

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA
11:35

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

Published on: August 21, 2016

13.4K
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

34.5K
Author Spotlight: Finding New Therapeutic Targets for Malignant Peripheral Nerve Sheath Tumor Through Genome-Scale shRNA Screens
09:33

Author Spotlight: Finding New Therapeutic Targets for Malignant Peripheral Nerve Sheath Tumor Through Genome-Scale shRNA Screens

Published on: August 25, 2023

1.5K

Area of Science:

  • Genomics
  • Clinical Genetics
  • Bioinformatics

Background:

  • Clinical genetics faces challenges in analyzing genomes and identifying disease-causing variants.
  • Whole Genome Sequencing (WGS) necessitates advanced interpretation of non-coding genetic variations.

Purpose of the Study:

  • To introduce TGex, a Translational Genomics expert platform for genome variation analysis and interpretation.
  • To highlight TGex's capabilities in interpreting non-coding variants and its integration with clinical genetics workflows.

Main Methods:

  • TGex combines advanced variant filtering with knowledge-driven analysis using the VarElect tool and GeneCards knowledgebase.
  • The platform incorporates GeneHancer for interpreting non-coding variants (enhancers and promoters).
  • TGex features an interactive interface, ACMG compliance, automated reporting, and API integration with EHR and LIMS.

Main Results:

  • TGex demonstrated high diagnostic yields: 42% for single exome and 50% for trio analyses in 1500 rare genetic disease cases.
  • The platform identified critical actionable genetic findings, aiding clinical decision-making.
  • TGex facilitates rapid and cost-effective clinical genetic testing workflows.

Conclusions:

  • TGex is an innovative tool for annotating, analyzing, and prioritizing coding and non-coding genomic variants.
  • The platform accelerates variant interpretation in clinical genetics, offering significant diagnostic yield.
  • TGex simplifies and enhances clinical genetics workflows for various testing scenarios.