Related Experiment Video

Updated: Feb 8, 2026

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

14.4K

The functional impact of variants of uncertain significance in BRCA2

Romy L S Mesman1, Fabienne M G R Calléja1, Giel Hendriks1

  • 1Department of Human Genetics, Leiden University Medical Center, PO Box 9600, Leiden, 2300RC, The Netherlands.

Genetics in Medicine : Official Journal of the American College of Medical Genetics
|July 11, 2018
PubMed
Abstract

Keywords:
BRCA2Functional assaysHomology directed repair.Variants of uncertain significance

More Related Videos

Silencing of BRCA2 to Identify Novel BRCA2-regulated Biological Functions in Cultured Human Cells09:24

Silencing of BRCA2 to Identify Novel BRCA2-regulated Biological Functions in Cultured Human Cells

Published on: August 12, 2015

9.6K
A Scalable, Cell-Based Method for the Functional Assessment of Ube3a Variants06:35

A Scalable, Cell-Based Method for the Functional Assessment of Ube3a Variants

Published on: October 10, 2022

2.4K

Related Concept Videos

Histone Variants at the Centromere02:30

Histone Variants at the Centromere

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...
5.1K
Statistical Significance01:50

Statistical Significance

Once data is collected from both the experimental and the control groups, a statistical analysis is conducted to find out if there are meaningful differences between the two groups. A statistical analysis determines how likely any difference found is due to chance (and thus not meaningful). In psychology, group differences are considered meaningful, or significant, if the odds that these differences occurred by chance alone are 5 percent or less. Stated another way, if we repeated this...
22.0K
Significance of Center of Mass01:12

Significance of Center of Mass

The center of mass of an object is defined as the mass-weighted average position of all the particles that comprise the object. The significance of the center of mass of an object can be seen by looking at its dynamics. The time derivative of the center of mass gives its velocity, assuming that the object's mass remains constant over time. Furthermore, the total linear momentum of an object can be seen as the linear momentum of a single particle of the object's total mass moving with...
7.7K
The Significance of Membrane Transport01:44

The Significance of Membrane Transport

The transport of solutes across the cell membrane is essential for metabolic processes, like maintaining cell size and volume, generating the action potential, exchanging nutrients and gases, etc. Membrane transport can be either passive or active. It can be simple diffusion, facilitated, or mediated transport aided by transport proteins such as transporters and channels.
Transporters facilitate either an active or passive movement of solutes. They can allow a single-molecule transport down its...
42.5K
Cholesterol: Significance and Regulation01:29

Cholesterol: Significance and Regulation

Although not a source of energy, cholesterol plays a significant role as a foundational structure for bile salts, steroid hormones, and vitamin D, as well as being a crucial component of plasma membranes. Approximately 15% of blood cholesterol is derived from our diet, with the remainder synthesized from acetyl CoA by the liver and intestines. Cholesterol is eliminated from the body through its conversion into bile salts, which are eventually discarded in the feces.
Considering cholesterol and...
1.4K
Significance Testing: Overview01:04

Significance Testing: Overview

Significance testing is a set of statistical methods used to test whether a claim about a parameter is valid. In analytical chemistry, significance testing is used primarily to determine whether the difference between two values comes from determinate or random errors. The effect of a particular change in the measurement protocol, analyst, or sample itself can cause a deviation from the expected result. In the case of a suspected deviation/outlier, we need to be able to confirm mathematically...
12.7K