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 genome assembly):

Upload your variants in VCF format, with only the first 5 tab-delimited columns: CHR, POS, ID, REF, ALT.
Limit your dataset < 1,000,000 variants, which typically requires ~40 seconds of processing time.
You can download a sample dataset here.



⏳ Processing your request, please wait...

Visit HGIDSOFT Hub

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| June 22, 2025

Web Visits |


Copyright © Laboratory of Human Genetics of Infectious Diseases
The Rockefeller University, New York, USA