Id: | hg38/scores/CADD_v1.7 |
Type: | np_score |
Version: | 0 |
Summary: |
CADD (Combined Annotation Dependent Depletion score) predicts the potential impact of a SNP |
Description: |
CADD (Combined Annotation Dependent Depletion) scores the deleteriousness of single nucleotide variants, multi-nucleotide substitutions, and indels by integrating diverse annotations into a single metric. Unlike tools limited to specific information types or variant categories, CADD combines naturally selected and simulated mutations for a comprehensive assessment. CADD scores correlate with allelic diversity, coding and non-coding pathogenicity, and regulatory effects, effectively prioritizing causal variants across varied functional categories and genetic architectures. Additionally, CADD scores for complex trait-associated variants from GWAS correlate with study sample size, making it a valuable tool in research and clinical settings. Downloaded on: 10/24/24 https://krishna.gs.washington.edu/download/CADD/v1.7/GRCh38/whole_genome_SNVs.tsv.gz https://krishna.gs.washington.edu/download/CADD/v1.7/GRCh38/whole_genome_SNVs.tsv.gz.tbi |
Labels: |
|
ID | Type | Default annotation | Description | Histogram | Range |
---|---|---|---|---|---|
cadd_raw | float |
cadd_raw |
CADD raw score for functional prediction of a SNP. The larger the score
the more likely the SNP has damaging effect
Small values desc: less damaging
Large values desc: more damaging
|
[-28.378, 25.512] | |
cadd_phred | float |
cadd_phred |
CADD phred-like score. This is phred-like rank score based on whole
genome CADD raw scores. The larger the score the more likely the SNP
has damaging effect.
Small values desc: less damaging
Large values desc: more damaging
|
[0.000, 99.000] |
Filename | Size | md5 |
---|---|---|
genomic_resource.yaml | 2.98 KB | 89d2e672fdc46407262acdf8336be993 |
whole_genome_SNVs.tsv.gz | 81.47 GB | 88577a55f1cd519d44e0f415ba248eb9 |
whole_genome_SNVs.tsv.gz.dvc | 111.0 B | 7177b272c6ce8a04fb81a9a05b03c357 |
whole_genome_SNVs.tsv.gz.tbi | 2.63 MB | 347df8fac17ea374c4598f4f44c7ce8b |
whole_genome_SNVs.tsv.gz.tbi.dvc | 111.0 B | 672ba7889f3d407aaf32a4d8067d9af5 |
statistics/ |