STRetch

STRetch detects pathogenic short tandem repeat (STR) expansions across the human genome to enable identification of causal mutations implicated in Mendelian diseases.

Key Features:

• Genome-wide detection: Scans the entire human genome for STR expansions using short-read sequencing data, overcoming read-length limitations of individual reads.
• Novel loci identification: Reports expansions at known pathogenic loci and identifies candidate novel STR loci genome-wide.

Scientific Applications:

• Genetic research: Facilitates investigation of the genetic basis of Mendelian diseases by enabling discovery and characterization of STR expansions genome-wide.
• Diagnostics: Supports clinical genetic testing by detecting known and candidate pathogenic STR expansions from whole-genome sequencing data.

Methodology:

Analyzes short-read whole-genome sequencing data to detect and quantify STR expansions genome-wide, addressing limitations imposed by read length.