scSNV

scSNV enhances single nucleotide variant (SNV) identification and co-detection of A>G RNA edits from droplet-based single-cell RNA sequencing (dscRNA-seq) by collapsing molecular duplicates to improve variant-call accuracy.

Key Features:

• Molecular Duplicate Collapsing: Collapses molecular duplicates from dscRNA-seq to reduce false-positive variant calls and improve accuracy.
• Co-expression Analysis: Co-detects genetic variants and A>G RNA edits to enable analysis of variant co-expression within single cells.
• Efficiency and Speed: Performs rapid processing suitable for large-scale studies, demonstrated across twenty-two different samples.
• Compatibility with 10X Genomics Libraries: Supports 10X Genomics 5-prime and 3-prime libraries, versions 2 and 3.

Scientific Applications:

• Genomics: Enables precise single-cell SNV detection for genomic investigations of variation at cellular resolution.
• Transcriptomics: Links genetic variants and RNA expression, including A>G RNA edits, to study transcript-level consequences.
• Personalized Medicine: Facilitates studies of cellular heterogeneity, disease mechanisms, and potential therapeutic targets at single-cell resolution.

Methodology:

Collapses molecular duplicates generated during dscRNA-seq to enhance the signal-to-noise ratio in variant calling, thereby improving sensitivity and specificity.