Gene Mutation

Molecule Tutorials - Herong's Tutorial Examples

∟Gene Mutation

Provides notes and tutorial examples on gene mutation. Topics include gene mutation types, mutation inheritance likelihood, types of genetic tests, NGS (Next-Generation Sequencing), VCF (Variant Calling Format) files, VAF (Variant Allele Frequency), Mutation Naming Convention.

What Is Gene Mutation

What Is Point Mutation

Base-Pair Insertion and Deletion

Gene Mutation Inheritance Likelihood

Types of Genetic Testing

Mutation Detection with NGS

What Is Allele Frequency

What Is VCF (Variant Calling Format)

"vcftools" - VCF Utility Command

What Is VAF (Variant Allele Frequency)

Gene Mutation Naming Convention

Gene Mutation Test Report

What Is ctDNA Testing

Sanger Sequencing Test Report

Takeaways:

Germline mutation occurs in germ (egg and sperm) cells.
Somatic mutation occurs in somatic (body) cells.
Germline chromosome is randomly chosen from one of two twisted chromosomes. So a gene mutation in 1 chromosome only gets 50% chance to be passed to the next generation.
ctDNA (circulating tumor DNA) testing uses DNA fragments in blood plasma released from dead cells.
A read in NGS processing represents a single occurrence of a specific nucleotide aligned at a specific position of the reference genome.
VAF (Variant Allele Frequency) is the radio of the variant read count against the total read count at a given position.