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

Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

19.0K
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%...
19.0K
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

19.2K
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,...
19.2K
Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

68
The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...
68
Organization of Genes02:07

Organization of Genes

74.0K
Overview
74.0K
Multi-species Conserved Sequences02:51

Multi-species Conserved Sequences

4.9K
Next-generation sequencing technologies have created large genomic databases of a variety of animals and plants. Ever since the human genome project was completed, scientists studied the genome of primates, mammals, and other phylogenetically distant living beings. Such large-scale  studies have provided new insights into the evolutionary relationship between organisms.
Although the genome of each species varies greatly from each other, a few sequences are highly conserved. Such conserved...
4.9K
Mutations01:39

Mutations

95.4K
Overview
95.4K

You might also read

Related Articles

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

Sort by
Same author

Population-scale detection of methylation outliers from long-read genome sequencing.

medRxiv : the preprint server for health sciences·2026
Same author

RNU4ATAC-opathy: Clinical, molecular and transcriptomic insights from a large cohort.

Genetics in medicine : official journal of the American College of Medical Genetics·2026
Same author

Decoding common and rare noncoding variant effects across cellular and developmental contexts.

Nature genetics·2026
Same author

Building an Interoperable Rare Disease Multi-omic Resource: The GREGoR Data Model and Dataset.

bioRxiv : the preprint server for biology·2026
Same author

Genomics-informed approach identifies which cell types regulate the metabolome.

Bioinformatics (Oxford, England)·2026
Same author

Multi-Omic, Multi-Tissue Responses to Acute Exercise in Sedentary Adults: Findings from the Molecular Transducers of Physical Activity Consortium.

bioRxiv : the preprint server for biology·2026
Same journal

Comparative profiles of pediatric Mendeliome: A Single-Centre 572-Whole-Exome Sequencing Study in Xinjiang.

Human heredity·2026
Same journal

Erratum.

Human heredity·2026
Same journal

Exploratory Analysis of HMGB1 Genetic Variants and Their Potential Association with Lung Cancer Susceptibility and Chemotherapy Response in a Chinese Population.

Human heredity·2025
Same journal

Weighted Burden Analysis of Rare Genetic Variants Identifies Novel Genes with Effects on BMI.

Human heredity·2025
Same journal

Generalized Stable Population and Agent-Based Models of Phenotypic Transmission in Human Populations, with an Application to Body Size.

Human heredity·2025
Same journal

Proteinase-activated receptor 2 (PAR-2) expression and F2RL1 genetic variants are associated with asthma: a case-control study in the Chinese population.

Human heredity·2025
See all related articles

Related Experiment Video

Updated: Mar 9, 2026

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

13.6K

Non-Coding Loss-of-Function Variation in Human Genomes.

Zachary Zappala1, Stephen B Montgomery

  • 1Department of Genetics, Stanford University, Stanford, Calif., USA.

Human Heredity
|January 12, 2017
PubMed
Summary
This summary is machine-generated.

Understanding gene tolerance to loss-of-function variation aids in identifying therapeutic targets and genetic risks. New methods are needed to interpret whole-genome sequencing data for non-coding variants.

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

34.9K
Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

10.6K

Related Experiment Videos

Last Updated: Mar 9, 2026

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

13.6K
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

34.9K
Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

10.6K

Area of Science:

  • Genomics
  • Human Genetics
  • Bioinformatics

Background:

  • Whole-genome and exome sequencing reveal gene tolerance to loss-of-function (LOF) variation.
  • This understanding aids in identifying safe therapeutic targets and rare genetic risk factors.
  • Current focus on protein-coding regions limits discovery of non-coding variation impacts.

Purpose of the Study:

  • To review recent studies on LOF variation.
  • To explore emerging approaches for interpreting whole-genome sequencing data.
  • To identify impactful non-coding LOF variants.

Main Methods:

  • Review of existing literature on LOF variation.
  • Analysis of strategies for whole-genome sequencing data interpretation.
  • Focus on identifying non-coding variants.

Main Results:

  • LOF variation tolerance varies across genes.
  • Exome sequencing primarily captures coding variants.
  • Whole-genome sequencing offers potential for non-coding variant discovery.

Conclusions:

  • Interpreting non-coding variation is crucial for comprehensive genomic analysis.
  • Emerging bioinformatics approaches are key to unlocking non-coding variant impacts.
  • Future research should prioritize non-coding LOF variant identification.