type: allele_score 

table:
  filename: All_20180418_chr.vcf.gz
  index_filename: All_20180418_chr.vcf.gz.tbi


default_annotation:
  - source: RS
    name: dbSNP_RS
         
meta:
  summary: |
      dbSNP: A public database of genetic variations for research and clinical use.
  description: |

      The Database of Single Nucleotide Polymorphisms (dbSNP), maintained by the NCBI, is a key repository of genetic variation data, including SNPs, small insertions, deletions, and other minor variants. Widely used in research, dbSNP aids studies of population diversity, disease associations, and evolutionary biology. Each variant has a unique Reference SNP ID (rsID), like rs12345, used across scientific studies and databases. Integrated with tools such as ClinVar and RefSeq, dbSNP is essential for annotating variants, exploring their genomic locations, and assessing potential impacts. Freely accessible online, it supports large-scale analyses and is indispensable for research and clinical genomics.
      
      
      [Sherry et al., dbSNP-Database for Single Nucleotide Polymorphisms and Other Classes of Minor Genetic Variation, 
      Genome Research 1999](https://genome.cshlp.org/content/9/8/677.long)
      
      Downloaded on: 10/29/24 
      
      [https://ftp.ncbi.nih.gov/snp/organisms/human\_9606\_b151\_GRCh38p7/VCF/All\_20180418.vcf.gz](https://ftp.ncbi.nih.gov/snp/organisms/human_9606_b151_GRCh38p7/VCF/All_20180418.vcf.gz)
      
      Processing details: dataPrep.sh removes rows above header and remaps chromosome names to have `chr` prefix.
      
  labels:
    reference_genome: hg38/genomes/GRCh38-hg38
