Single Color Multiplexed ddPCR Copy Number Measurements and Single Nucleotide Variant Genotyping

Christina M Wood-Bouwens1,2, Hanlee P Ji3,4

  • 1Division of Oncology, Department of Medicine, Stanford University School of Medicine, Stanford, CA, USA.

Related Concept Videos

Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

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,...
18.5K
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
Nucleotide Excision Repair01:08

Nucleotide Excision Repair

Overview
40.9K
Colors and Magnetism03:02

Colors and Magnetism

Color in Coordination Complexes
When atoms or molecules absorb light at the proper frequency, their electrons are excited to higher-energy orbitals. For many main group atoms and molecules, the absorbed photons are in the ultraviolet range of the electromagnetic spectrum, which cannot be detected by the human eye. For coordination compounds, the energy difference between the d orbitals often allows photons in the visible range to be absorbed and emitted, which is seen as colors by the human...
14.2K
Load along a Single Axis01:29

Load along a Single Axis

In structural engineering, the analysis of beams subjected to varying loads is a critical aspect of understanding the behavior and performance of these structural elements. A common scenario involves a beam subjected to a combination of different load distributions.
Consider a beam of length L subjected to a varying load, which is a combination of parabolic and trapezoidal load distribution along the x-axis. In this case, it is essential to determine the resultant loads, their locations, and...
648
Single Pipe Systems01:24

Single Pipe Systems

In pipe flow analysis, problems are typically categorized into three types — Type I, Type II, and Type III — based on the known parameters and the desired outcome. Each type of problem addresses specific engineering requirements using fluid properties, pipe characteristics, and operational conditions.
In a Type I problem, fluid properties (density and viscosity), pipe characteristics (including diameter, length, and surface roughness), and the flow rate or average velocity are...
462