DIVERS

DIVERS

Genome-wide detection of Deep Intronic Variants with Effect on Recursive Splicing


Human transcripts with long introns can undergo recursive splicing (RS) - a stepwise splicing mechanism that efficiently and seamlessly removes long intronic sequences by converting them into smaller segments.
 
Deep intronic variants that disrupt RS could alter splicing, leading to intronic retentions with/without frameshifts and premature stops, thus resulting in deleterious and potentially pathogenic gene products, contributing to human diseases and traits.
 
DIVERS is a genome-wide computational method to systematically detect and interpret deep intronic variants that may impact RS. DIVERS currently identifies five types of RS-variants: "RS-AGGT", "RS-BP/BP2", "RS-AGAIN", "RS-DW5SS", and "CRYPRS".
 
Reference: Zhang P. et al. Genome-wide detection of human deep intronic variants that affect recursive splicing. 2025.

Upload Variants (human GRCh38/hg38 genome assembly):

Provide the varaints in VCF format, with only the first 5 columns (CHR, POS, ID, REF, ALT) tab-delimited.
Limit your uploading data < 1,000,000 variants (~40 sec of running time).
You can find a sample dataset here.



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Developer| Peng ZHANG   Ph.D.

Lab Head | Jean-Laurent CASANOVA   M.D., Ph.D.

Laboratory | Laboratory of Human Genetics of Infectious Diseases (HGID), The Rockefeller University

Last Update| March 10, 2025

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