ERINS

ERINS detects and characterizes novel sequence insertions (nsINS) across a wide size range from next-generation sequencing data using an extended reference-based strategy.

Key Features:

• Structural Variation and Split-Read Integration: Identifies nsINS breakpoints by combining structural variation signals with mapping states of split reads.
• Iterative Reference Extension: Applies a left-most mapping strategy to iteratively extend the reference genome at detected breakpoints to infer inserted sequence content.
• Read Realignment to Extended Reference: Realigns sequencing reads to the extended reference genome to improve detection and characterization of insertions.
• Genotype Inference via Statistical Testing: Performs statistical tests on read counts after realignment to infer genotypes of detected nsINS events.
• Large Insertion Detection: Detects novel sequence insertions larger than the mean insert size, including insertions exceeding 200 base pairs.

Scientific Applications:

• Structural Variant Analysis: Detects and characterizes large novel sequence insertions in genomic datasets.
• Genome Variation Studies: Supports investigation of insertion polymorphisms and structural genome variation using next-generation sequencing data.
• Insertion Genotyping: Infers genotypes of detected nsINS events using read-count-based statistical testing.

Methodology:

ERINS detects nsINS breakpoints using structural variation signals and split-read mapping states, iteratively extends the reference genome at breakpoints using a left-most mapping strategy, realigns reads to the extended reference, and performs statistical testing on read counts to infer nsINS genotypes.