hipSTR

hipSTR genotypes and phases short tandem repeats (STRs) from Illumina high-throughput sequencing data to enable analysis of STR variation in genetic disease research, population genetics, and forensic applications.

Key Features:

• Haplotype-Based Methodology: Uses a haplotype-based approach to genotype and phase STR alleles, improving interpretation of complex repeat regions.
• Genotyping and Phasing from Illumina: Leverages Illumina sequencing reads to produce STR genotype calls and phased alleles.
• Genome-Wide Analysis Capability: Performs genome-wide analyses of STR loci across the genome.
• De Novo Mutation Validation: Supports validation and analysis of de novo STR mutations.

Scientific Applications:

• Genetic Disease Research: Enables identification of pathogenic or disease-associated STR variations through accurate genotyping and phasing.
• Population Genetics: Facilitates studies of population structure, ancestry, and evolutionary dynamics using genome-wide STR variation.
• Forensic Casework: Provides precise STR genotypes for individual identification and kinship analysis.

Methodology:

Applies a haplotype-based genotyping and phasing algorithm to Illumina sequencing data to generate phased STR genotypes.