Related Experiment Video

Updated: Jan 17, 2026

Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format
05:58

Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format

Published on: August 20, 2018

11.4K

First reported TRIB1 copy number loss in myelodysplastic syndrome (MDS) revealed by single nucleotide polymorphism

Kun Chi1, Lili Song2

  • 1Department of Clinical Laboratory, Qingdao Women and Children's Hospital, Women and Children's Hospital, Qingdao University, 266034, Qingdao, China.

Leukemia Research Reports
|September 22, 2025
PubMed

Keywords:
Copy number variationsSNP-array analysisTRIB1Uniparental disomy

More Related Videos

Detection of Copy Number Alterations Using Single Cell Sequencing09:45

Detection of Copy Number Alterations Using Single Cell Sequencing

Published on: February 17, 2017

12.1K
Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors11:15

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors

Published on: September 20, 2016

25.0K

Related Concept Videos

Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
18.6K
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,...
17.9K