| Id | gene_properties/gene_scores/new/LGD |
|---|---|
| Type | gene_score |
| Version | 0 |
| Summary |
Gene vulnerability/intolerance score based on the rare LGD variants
|
| Description |
The LGD vulnerability score is based on relating the observed and expected numbers of ultra-rare LGD variants, where the expected number of ultra-rare LGDs in a gene is computed through a regression to the number of ultra-rare synonymous variants. The score is defined as the cumulative distribution function at the observed number of UR LGD variants of a Poisson distribution with a parameter equal to the expected number of UR LGD variants. Downloaded on: 10/23/25 https://www.pnas.org/doi/suppl/10.1073/pnas.1516376112/suppl_file/pnas.1516376112.sd03.xlsx Processing details: dataPrep.py converts Supplementary Data 3 into a csv file. |
| Labels |
| ID | Type | Description | Histograms | Range |
|---|---|---|---|---|
| LGD score |
Likelihood that a gene is vulnerable to damaging mutation
Small values desc: less likely to be vulnerable
Large values desc: more likely to be vulnerable
|
|
[1.4e-05, 1] | |
| LGD rank |
Gene rank after sorting by LGD vulnerability score
Small values desc: more likely to be vulnerable
Large values desc: less likely to be vulnerable
|
|
[1, 2.39e+04] | |
| RVIS score |
Intolerance of a gene to genetic variants
Small values desc: more intolerant
Large values desc: less intolerant
|
|
[-8.29, 1e+03] | |
| RVIS rank |
Gene rank after sorting by RVIS intolerance score
Small values desc: more intolerant
Large values desc: less intolerant
|
|
[1, 2.03e+04] | |
| LGD and RVIS average rank |
LGD and RVIS average rank
Small values desc: more intolerant
Large values desc: less intolerant
|
|
[2, 2.21e+04] |
| Filename | Size | md5 |
|---|---|---|
| LGD.csv | 1.02 MB | 175fd5312031bed90f4d673fab804651 |
| dataprep.py | 103.0 B | 085d32f7e0337bceb2fd7b65b0ebf280 |
| genomic_resource.yaml | 2.78 KB | 00ef9e2bd535de2ec2080140350e621d |
| pnas.1516376112.sd03.xlsx | 1.1 MB | 6776374e67b9d578998cf05c16c380b2 |
| statistics/ |