Identification of conserved and polymorphic STRs for personal genomes

Area of Science:

• Genomics
• Bioinformatics

Background:

• Short tandem repeats (STRs) are prevalent in the human genome and linked to genetic diseases, gene regulation, and evolutionary/forensic analyses.
• Next-generation sequencing and cross-genome comparisons enable efficient identification of polymorphic STR markers.

Purpose of the Study:

• To develop an automated and efficient system for genome-scale detection of human polymorphic STRs.
• To identify novel STR biomarkers with varying specificity.

Main Methods:

• Alignment and calibration of assembled contigs from next-generation sequencing data against reference sequences.
• Verification using 1000 Genomes Project data, CODIS markers, and disease-related STR motifs.
• Analysis of STR variations in conserved homologous and human-unique genes.

Main Results:

• An automated system for detecting human polymorphic STRs at the genome scale was developed.
• 477 polymorphic STRs were identified in 492 human-unique genes, with 26 STRs clustered for comparison.
• The system successfully verified known STR markers and identified novel ones.

Conclusions:

• An online system was created to efficiently identify polymorphic STRs.
• The system provides novel, distinguishable STR biomarkers for diverse applications.
• Users can query and compare candidate polymorphic STRs within personal genomes.