An Approach to Identify Individual Functional Single Nucleotide Polymorphisms and Isoform MicroRNAs

Area of Science:

• Genomics
• Molecular Biology
• Bioinformatics

Background:

• MicroRNAs (miRNAs) and single nucleotide polymorphisms (SNPs) are crucial in disease development, particularly cancer.
• SNPs within pre-miRNA sequences can alter miRNA splicing and function, impacting disease risk.

Purpose of the Study:

• To develop a novel approach and software tool (IsomiR_Find) for identifying disease/phenotype-related SNPs and isomiRs in individuals.
• To improve disease risk assessment and facilitate individualized precision medicine.

Main Methods:

• Utilized individual samples and SNP data from the 1000 Genomes Project.
• Mapped SNPs to pre-miRNAs using whole-genome coordinates to construct SNP-pre-miRNA sequences.
• Employed the matpred2 software tool to identify mature miRNA splicing sites and subsequently detect isomiRs, verified with miRNA sequencing data.

Main Results:

• Successfully identified disease/phenotype-related SNPs and isomiRs.
• Generated potential biomarkers for biological experiments.
• Elucidated functions of specific miRNAs and SNPs.
• Validated the approach through individual miRNA sequencing data.

Conclusions:

• The IsomiR_Find tool and associated approach offer a method for improved disease risk assessment.
• This work contributes to understanding miRNA and SNP functions in disease.
• The findings support the advancement of individualized precision medicine strategies.