Raman spectromics method for fast and label-free genotype screening

Area of Science:

• Biotechnology
• Spectroscopy
• Genetics

Background:

• Genetic mutations are linked to disease onset and progression.
• Current genetic testing methods are costly, time-consuming, and complex.
• A need exists for rapid, sensitive, user-friendly, and cost-effective genotype screening.

Purpose of the Study:

• To propose and investigate a Raman spectroscopic method for fast, label-free genotype screening.
• To validate the method using wild-type and mutant *Cryptococcus neoformans*.
• To develop a cost-effective and user-friendly approach for genetic analysis.

Main Methods:

• Spontaneous Raman spectroscopy was used for measurements.
• A one-dimensional convolutional neural network (1D-CNN) was employed for genotype identification.
• Gradient-weighted class activation mapping (Grad-CAM) was used for spectral interpretability.

Main Results:

• Accurate identification of different genotypes was achieved.
• Significant correlations between metabolic changes and genotypic variations were revealed.
• Genotype-specific spectral regions and metabolite contributions were visualized and quantified.

Conclusions:

• The proposed Raman spectroscopic method shows potential for rapid, label-free genotype screening.
• This technique offers a viable alternative to conventional genetic testing for pathogens.
• The method facilitates understanding of genotype-phenotype relationships through metabolic profiling.