Related Experiment Video

Updated: Feb 28, 2026

Optimized LC-MS/MS Method for the High-throughput Analysis of Clinical Samples of Ivacaftor, Its Major Metabolites, and Lumacaftor in Biological Fluids of Cystic Fibrosis Patients
06:14

Optimized LC-MS/MS Method for the High-throughput Analysis of Clinical Samples of Ivacaftor, Its Major Metabolites, and Lumacaftor in Biological Fluids of Cystic Fibrosis Patients

Published on: October 15, 2017

8.8K

ClinVar data parsing

Xiaolei Zhang1,2, Eric V Minikel3,4, Anne H O'Donnell-Luria3,4,5

  • 1National Heart and Lung Institute, Imperial College London, London, SW7 2AZ, UK.

Wellcome Open Research
|June 21, 2017
PubMed
Abstract

Keywords:
ClinVarMendelian diseaseXML parsingpathogenic variantsvariant interpretation

More Related Videos

Software for Analysis of Heart Rate and Blood Pressure Time-series Data from the Valsalva Maneuver14:28

Software for Analysis of Heart Rate and Blood Pressure Time-series Data from the Valsalva Maneuver

Published on: June 27, 2025

1.2K
Cortisol Extraction from Sturgeon Fin and Jawbone Matrices06:01

Cortisol Extraction from Sturgeon Fin and Jawbone Matrices

Published on: September 10, 2019

8.7K

Related Concept Videos

Parseval's Theorem01:18

Parseval's Theorem

Parseval's theorem is a fundamental concept in signal processing and harmonic analysis. It asserts that for a periodic function, the average power of the signal over one period equals the sum of the squared magnitudes of all its complex Fourier coefficients. This theorem, named after Marc-Antoine Parseval, provides a powerful tool for analyzing the energy distribution in signals.
Interestingly, Parseval's theorem also holds for the trigonometric form of the Fourier series, which expresses a...
1.2K
Variance01:15

Variance

The deviations show how spread out the data are about the mean. A positive deviation occurs when the data value exceeds the mean, whereas a negative deviation occurs when the data value is less than the mean. If the deviations are added, the sum is always zero. So one cannot simply add the deviations to get the data spread. By squaring the deviations, the numbers are made positive; thus, their sum will also be positive.
The standard deviation measures the spread in the same units as the data....
12.9K
Censoring Survival Data01:09

Censoring Survival Data

Survival analysis is a statistical method used to analyze time-to-event data, often employed in fields such as medicine, engineering, and social sciences. One of the key challenges in survival analysis is dealing with incomplete data, a phenomenon known as "censoring." Censoring occurs when the event of interest (such as death, relapse, or system failure) has not occurred for some individuals by the end of the study period or is otherwise unobservable, and it might have many different...
610
Variability: Analysis01:11

Variability: Analysis

Measures of variability are statistical metrics that reveal the dispersion pattern within a dataset. They are pivotal in biostatistics, providing insights into the heterogeneity within health and biological data. Variability signifies the degree to which data points diverge from one another, helping researchers understand the potential range of values and associated uncertainty within the data.
The range is a simple measure of variability, indicating the difference between the highest and...
576
Calibration Curves: Linear Least Squares01:20

Calibration Curves: Linear Least Squares

A calibration curve is a plot of the instrument's response against a series of known concentrations of a substance. This curve is used to set the instrument response levels, using the substance and its concentrations as standards. Alternatively, or additionally, an equation is fitted to the calibration curve plot and subsequently used to calculate the unknown concentrations of other samples reliably.
For data that follow a straight line, the standard method for fitting is the linear...
4.7K
¹³C NMR: ¹H–¹³C Decoupling01:04

¹³C NMR: ¹H–¹³C Decoupling

The probability of having two carbon-13 atoms next to each other is negligible because of the low natural abundance of carbon-13. Consequently, peak splitting due to carbon-carbon spin-spin coupling is not observed in spectra. However, protons up to three sigma bonds away split the carbon signal according to the n+1 rule, resulting in complicated spectra.
A broadband decoupling technique is used to simplify these complex, sometimes overlapping, signals. Broadband decoupling relies on a...
1.9K