NanoSTR

NanoSTR detects and genotypes short tandem repeats (STRs) in human genomes from nanopore long-read sequencing (e.g., MinION) to enable accurate STR analysis for genetic variation, disease association, and forensic applications.

Key Features:

• Length-Number-Rank (LNR) detection: Utilizes the length-number-rank (LNR) information of reads from long-read nanopore sequencing to identify target STR loci and determine genotypes.
• Compatibility with nanopore data: Designed specifically for long-read nanopore sequencing data, including analyses performed on the MinION platform.
• Comparative performance: Demonstrated improved detection and genotyping relative to existing methods such as Tandem-Genotypes and TRiCoLOR.
• Concordance metrics: Achieved 100% concordance on error-free simulated data and over 85% concordance on standard samples containing autosomal and Y-chromosomal loci.

Scientific Applications:

• Genetic disease analysis: Genotyping STRs relevant to disease association and repeat-expansion disorders.
• Forensic identification: Profiling STR markers for individual identification in forensic contexts.
• Paternity testing: Analyzing STR loci for familial and paternity testing applications.
• Population genetics: Characterizing genetic diversity and population structure using STR marker variation.

Methodology:

Analyzes nanopore long-read sequencing reads using length-number-rank (LNR) information to identify and genotype target STR loci.