HapEdit

HapEdit evaluates and edits haplotype assemblies from human genomes to assess and improve haplotype accuracy for genetic analyses.

Key Features:

• Accuracy Assessment: Evaluates the accuracy of assembled haplotypes and identifies errors in computational assemblies.
• Manual Editing Capabilities: Allows breaking erroneous haplotype segments into smaller parts and concatenating segments when supported by evidence.
• Base Quality Editing: Enables modification of bases with low-quality scores to increase reliability of haplotype assemblies.
• Versatile Input Compatibility: Accepts sequencing data from Polonator, Illumina, SOLiD, 454, and Sanger technologies.

Scientific Applications:

• Human disease research: Provides accurate haplotype information to support identification of genetic markers and interpretation of genetic variation associated with diseases and complex traits.

Methodology:

Performs haplotype assembly from data generated by massively parallel sequencing technologies and enables manual refinement and correction of computational assemblies.