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

Ying Wang1, Jidong Ru2, Tao Jin1

  • 1College of Computer and Control Engineering, Qiqihar University, No. 42, Wenhua Street, Qiqihar, Heilongjiang 161006, China.

Biomed Research International
|August 31, 2019
PubMed
Summary
This summary is machine-generated.

This study introduces IsomiR_Find, a tool identifying disease-related single nucleotide polymorphisms (SNPs) and microRNA variants (isomiRs). This approach enhances disease risk assessment and enables personalized precision medicine.

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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.