GDI.v2

Gene Damage Index

GDI describes a gene-level metric for nonsynonymous mutational load in each protein-coding gene in the human population. It predicts whether a human protein-coding gene is likely to harbor disease-causing variants.
GDI is particularly useful in filtering out false-positive variants in searching for disease-causing candidate variants from NGS data.

GDIv2 is the new version of GDI by taking into account the length of the coding sequence and the uneven distribution of CADD scores across genes.
GDIv2_GRCh37 and GDIv2_GRCh38 scores were computed with 1kGP Phase-3 and 1kGP Phase-4, respectively.

GDI.v2: Gene Damage Index

GDI: accumulated mutational damage in the general population in human protein-coding genes. It is used to filter out false positive genes (those unlikely to cause disease) that show "HIGH" damage in the disease model of interest and relevant mode of inheritance. GDIv2 takes into account the length of coding sequence and the uneven distribution of CADD scores across genes.

Input: a list of genes separated by lines
Output: GDIv2_GRCh37 and GDIv2_GRCh38 phred scores
Reference: Talouarn E, et al. GDIv2: improving variant selection from human exomes. 2026.
Version 1: GDI.v1