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

Protein and Protein Structure02:15

Protein and Protein Structure

87.4K
Proteins are one of the most abundant organic molecules in living systems and have the most diverse range of functions of all macromolecules. Proteins may be structural, regulatory, contractile, or protective. They may serve in transport, storage, or membranes; or they may be toxins or enzymes. Their structures, like their functions, vary greatly. They are all, however, amino acid polymers arranged in a linear sequence.
A protein's shape is critical to its function. For example, an enzyme...
87.4K
Histone Variants at the Centromere02:30

Histone Variants at the Centromere

5.0K
Histone variants are the histone proteins with structural and sequence variations. These variants may be regarded as “mutant” forms that replace their canonical histone counterparts in the nucleosomes. Specific post-translational modifications on the histone variants enable further chromatin complexity and regulate tissue-specific gene expression. The most common histone variants are from histone H2A, H2B, and linker histone H1 families. However, several variants of histone H3...
5.0K
Structural Protein Function01:56

Structural Protein Function

29.9K
Structural proteins are a category of proteins responsible for functions ranging from cell shape and movement to providing support to major structures such as bones, cartilage, hair, and muscles. This group includes proteins such as collagen, actin, myosin, and keratin.
Collagen, the most abundant protein in mammals, is found throughout the body. In connective tissue, such as skin, ligaments, and tendons, it provides tensile strength and elasticity.  In bones and teeth, it mineralizes to...
29.9K
Structural Protein Function01:56

Structural Protein Function

3.3K
3.3K
Protein and Protein Structures02:15

Protein and Protein Structures

19.1K
19.1K
Local Anesthetics: Chemistry and Structure-Activity Relationship01:30

Local Anesthetics: Chemistry and Structure-Activity Relationship

6.6K
Local anesthetics (LAs) are drugs that induce a temporary loss of sensation in a limited body area, preventing pain. Cocaine was the first local anesthetic discovered in the late 19th century. Cocaine is a benzoic acid ester obtained from the leaves of coca shrubs and was often used for its psychotropic effects. Cocaine was first isolated in 1860 by Albert Niemann. Sigmund Freud studied the physiological actions of cocaine. Carl Koller later introduced it into clinical practice in 1884 as a...
6.6K

You might also read

Related Articles

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

Sort by
Same author

Corrigendum to "Revisiting the modifiable areal unit problem in the era of exposome-wide association studies: Assessing the performance of the CDC/ATSDR social vulnerability index at privacy-protecting spatial scales" [Environ. Res. (2026) 124912].

Environmental research·2026
Same author

Shared trans-ancestry architecture of HLA-mediated disease risk in the <i>All of Us</i> Research Program.

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

Prenatal Smoking Exposures and Epigenome-Wide Methylation in Newborn Blood.

Environmental health perspectives·2026
Same author

Corrigendum to "Revisiting the modifiable areal unit problem in the era of exposome-wide association studies: Assessing the performance of the CDC/ATSDR social vulnerability index at privacy-protecting spatial scales" [Environ. Res. (2026) 124912].

Environmental research·2026
Same author

Urine Proteomic Profiling at Admission Reveals Complement Biomarkers Linked to Alcohol-Associated Liver Disease.

Alcohol, clinical & experimental research·2026
Same author

Non-transcriptional activity of IRF3 promotes liver fibrosis and stress granule assembly via a dsRNA-TLR3-dependent pathway in hepatic stellate cells.

Hepatology (Baltimore, Md.)·2026

Related Experiment Video

Updated: Jan 29, 2026

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER
14:06

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER

Published on: June 23, 2012

15.7K

Identifying individual risk rare variants using protein structure guided local tests (POINT).

Rachel Marceau West1, Wenbin Lu1, Daniel M Rotroff2

  • 1Department of Statistics, North Carolina State University, Raleigh, North Carolina, United States of America.

Plos Computational Biology
|February 20, 2019
PubMed
Summary

This study introduces POINT, a novel method for pinpointing rare causal variants in genetic association studies. POINT uses protein structure to identify and rank specific variants contributing to complex diseases.

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

14.2K
Identifying Amino Acid Overproducers Using Rare-Codon-Rich Markers
10:41

Identifying Amino Acid Overproducers Using Rare-Codon-Rich Markers

Published on: June 24, 2019

8.8K

Related Experiment Videos

Last Updated: Jan 29, 2026

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER
14:06

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER

Published on: June 23, 2012

15.7K
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

14.2K
Identifying Amino Acid Overproducers Using Rare-Codon-Rich Markers
10:41

Identifying Amino Acid Overproducers Using Rare-Codon-Rich Markers

Published on: June 24, 2019

8.8K

Area of Science:

  • Genetics
  • Bioinformatics
  • Computational Biology

Background:

  • Rare variants are crucial for understanding complex human diseases.
  • Current aggregate analyses of rare variants lack precision in identifying specific causal variants.
  • Biological annotation is needed to enhance the information content of rare variants.

Purpose of the Study:

  • To develop a method for localized inference of rare variant associations.
  • To pinpoint specific causal variants within aggregated sets using protein structure.
  • To provide variant-specific association information and enable prioritization.

Main Methods:

  • Proposed a protein structure-guided local test (POINT).
  • Utilized a kernel machine framework for data-adaptive association testing.
  • Incorporated 3D protein structure to aggregate signals from neighboring variants.

Main Results:

  • POINT successfully provides variant-specific association information.
  • The method assigns p-values for variant ranking and prioritization.
  • Simulations demonstrated POINT's effectiveness in selecting important variants.

Conclusions:

  • POINT enables precise identification and prioritization of rare causal variants.
  • Leveraging protein structure enhances the power of rare variant association studies.
  • POINT can be applied to prioritize variants in genes like PCSK9, ANGPTL4, and CETP.