相关实验视频

Updated: Jan 24, 2026

Amplicon Sequencing using the Long-Read Sequencing Technologies
08:57

Amplicon Sequencing using the Long-Read Sequencing Technologies

Published on: August 29, 2025

517

与CYP21A2相关的CAH的遗传诊断:自适应抽样长读序列是一个准确和可扩展的解决方案

Dorte Launholt Lildballe1,2, Morten Reiffenstein Huno3,4, Lukas Ochsner Reynaud Ridder3,5,6

  • 1Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark. dorte.launholt.lildballe@clin.au.dk.

European journal of human genetics : EJHG
|January 22, 2026
PubMed
概括

长读数测序 (LRS) 通过精确识别CYP21A2基因变异,为诊断先天性上腺增生 (CAH) 提供了更快,更准确的方法. 这种先进的技术克服了当前方法的局限性,使复杂病例可靠的基因检测成为可能.

更多相关视频

FISH for Pre-implantation Genetic Diagnosis07:34

FISH for Pre-implantation Genetic Diagnosis

Published on: February 23, 2011

37.8K
Ultra-long Read Sequencing for Whole Genomic DNA Analysis10:34

Ultra-long Read Sequencing for Whole Genomic DNA Analysis

Published on: March 15, 2019

23.9K

相关概念视频

Uncertainty in Measurement: Reading Instruments02:46

Uncertainty in Measurement: Reading Instruments

Counting is the type of measurement that is free from uncertainty, provided the number of objects being counted does not change during the process. Such measurements result in exact numbers. By counting the eggs in a carton, for instance, one can determine exactly how many eggs are there in the carton. Similarly, the numbers of defined quantities are also exact. For example, 1 foot is exactly 12 inches, 1 inch is exactly 2.54 centimeters, and 1 gram is exactly 0.001 kilograms. Quantities...
50.9K
What is Genetic Engineering?00:49

What is Genetic Engineering?

Overview
79.8K
Ideal Solutions02:24

Ideal Solutions

According to Raoult’s law, the partial vapor pressure of a solvent in a solution is equal or identical to the vapor pressure of the pure solvent multiplied by its mole fraction in the solution. However, Raoult's Law is only valid for ideal solutions. For a solution to be ideal, the solvent-solute interaction must be just as strong as a solvent-solvent or solute-solute interaction. This suggests that both the solute and the solvent would use the same amount of energy to escape to the...
22.3K
Nursing Diagnosis01:22

Nursing Diagnosis

Following assessment, a nursing diagnosis is the next step in the nursing process. It begins after the nurse has collected and recorded the patient data. The purpose of diagnosing is to identify how the client responds to actual or potential health processes, identify factors that bestow or that cause health problems, the etiologies, and identify resources or strengths the individual, group, or community can draw on to prevent or resolve problems.
The nursing diagnosis focuses on evidence-based...
3.8K
Animal Mitochondrial Genetics02:59

Animal Mitochondrial Genetics

Among all the organelles in an animal cell, only mitochondria have their own independent genomes. Animal mitochondrial DNA is a double-stranded, closed-circular molecule with around 20,000 base pairs. Mitochondrial DNA is unique in that one of its two strands, the heavy, or H, -strand is guanine rich, whereas the complementary strand is cytosine rich and called the light, or L, -strand. Compared to nuclear DNA, mitochondrial DNA has a very low percentage of non-coding regions and is marked by...
9.0K
General Properties of Solutions02:12

General Properties of Solutions

Many common substances around us exist as a solution, such as ocean water, air, and gasoline. All solutions are mixtures of substances that are composed of varying amounts of two or more types of atoms or molecules. A mixture with a non-uniform composition is a heterogeneous mixture, whereas a mixture with a uniform composition is a homogeneous mixture. The components that make the homogeneous mixture are evenly spread out and thoroughly mixed. 
35.5K