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Mutability Analysis & Interpretation

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What is mutability ?

Mutability in simple terms describes the observed rate of a given position to change (or mutate). Frequency of change is calculated by a job called “Mutation-Call-Binom95”. This is a module that performs calculation of the 95% confidence interval for frequency of every variant at the genome position based on Wilks' theorem for binomial distribution. 

The mutability module generates a table in which each genomic position (nucleotide) is assigned with the most probable nucleotide variant. The variant is assigned based on the maximum of the low thresholds of confidence intervals (transformed to quasi-normal distribution) for each alternative in the given position.

 

Mutability of oligonucleotides varies across individuals, due to exposure to mutagenic agents or due to variable efficiency and/or accuracy of DNA repair. Such variability is captured by mutational signatures.

Reference Publication: https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0262495

 

For stepwise instructions on performing the pipeline on the T-Bioinfo Server and to understand the theoretical concept behind the algorithms used, visit Lesson 10: Genomics on OmicsLogic Learn Portal :

https://learn.omicslogic.com/Learn/course-3-genomics/lesson/10-mutability-analysis-and-interpretation

 

In this lesson, you will learn how to perform mutability analysis based on NGS data using T-bioinfo server. Subsequently, you will learn how to interpret pattern in the data based on mutability data using PCA