Researching mutations, insertions, and deletions
Identifying variations in a genetic sequence
Genetic sequence analysis allows for the detection of modifications that have appeared in DNA over time. These variations can take different forms: point mutations, insertions, or deletions of DNA fragments.
Researching these variations is essential for understanding the evolution of a genome, characterizing a genetic modification, or analyzing the differences between several sequences.
Depending on the project objective, the analysis may focus on a specific gene, a DNA fragment, or an entire genome.
When should you search for mutations or indels?
Researching mutations, insertions, or deletions can be useful in various scientific contexts, notably to:
- identify genetic variations that have appeared over time,
- compare a genome to a reference sequence,
- analyze modifications present in a target gene,
- detect insertions or deletions in a specific genomic region.
These analyses highlight the structural or point variations present in a DNA sequence.
Choosing the right strategy for your project
Detecting mutations, insertions, or deletions requires choosing the analysis method best suited to the scientific context.
Several parameters can influence this choice:
- the size of the genetic region studied,
- the type of variation sought,
- prior knowledge of
- the target sequence,
- the expected level of precision.
BIOMNIGENE's technical teams support each project to determine the most relevant methodological approach.
Which approaches to detect or quantify a gène?
The choice of method depends on the study objective and the extent of the genetic region analyzed.
Targeted gene sequencing
When a mutation is sought in a precise region of the genome, targeted sequencing can be performed on the gene of interest.
Sanger sequencing is particularly suitable for analyzing a point mutation or an insertion/deletion in a well-defined genetic region.
Global mutation analysis by NGS
When the objective is to identify a set of variations across a genome or large genetic regions, an NGS (Next Generation Sequencing) re-sequencing approach may be preferred.
This approach allows for the simultaneous analysis of a large number of sequences and the identification of different forms of genetic variations.
Targeted detection by PCR or qPCR
In certain cases, when the target sequence is already known and the precise location of the mutation is identified, PCR or qPCR based approaches can be used to confirm the presence of a genetic variation.
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