EDIR

EDIR maps and analyzes interspersed repeat structures that encompass coding sequences within the human exome to characterize positional relationships relevant to intragenic exonic deletions and genetic disease.

Key Features:

• Exome-focused mapping: Provides positional mapping of interspersed repeats specifically within the human exome and across coding sequences.
• Repetitive element annotation: Records detailed positional data for repetitive elements that are often flanked by regions of homology.
• Intragenic exonic deletion context: Targets repeats that encompass coding regions to inform analyses of intragenic exonic deletions.
• Inductive identification strategy: Employs an inductive approach to identify and catalog interspersed repeats as an alternative to brute-force methods.
• Sequence extraction: Supports rapid extraction of relevant exomic sequences associated with identified repeats.

Scientific Applications:

• Genetic disease investigation: Characterizing repeat-mediated intragenic exonic deletions implicated in genetic disorders.
• Genomic stability studies: Investigating the role of interspersed repeats and homologous flanking regions in genomic instability.
• Variation and gene-level analysis: Facilitating analysis of genetic variation affecting coding sequences, including per-gene investigations.

Methodology:

Uses an inductive strategy to identify and catalog interspersed repeats and to rapidly extract relevant sequences across the human exome as an alternative to brute-force search.