Annotation des variants
Cette page de documentation est en phase de développement.
Tables et références externes
| Table | Version |
|---|---|
| raw_clinvar | 2023-06-10 |
| raw_dbsnp | GCF_000001405.40.gz |
| raw_gnomad_genomes_v3 | 3.1 |
| gnomad_genomes_2.1.1 | 2.1.1 |
| gnomad_exomes_2.1.1 | 2.1.1 |
| raw_gnomad_constraint_v2_1_1 | 2.1.1 |
| raw_topmed_brave | ? |
| raw_1000_genomes | ? |
| raw_dbnsfp | 4.3 |
| raw_omim_gene_set | ? |
| raw_orphanet_gene_association | 2023-12-22 |
| raw_orphanet_disease_history | 2023-12-14 |
| raw_cosmic_gene_set | v98 (2023-05-23) |
| raw_ddd_gene_set | DDG2P_16_6_2023 |
| raw_hpo_gene_set | 2023-06-06 |
| raw_refseq_human_genes | 2023-06-14 |
| raw_refseq_annotation | GCF_000001405.40_GRCh38.p14_genomic.gff.gz (2023-03-21) |
Updated 5 months ago