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Table 3 Mutations extracted from PubMed/MEDLINE, PMC full texts, and PMC from PDFs including supplementary files such as Excel tables. Variants are grouped by variant type, counting each evidence for each variant resulting in the grand total. We also show the number of variants that we were able to map to a dbSNP ID, as well as the number of unique variants, disregarding occurrences across multiple publications

From: Integrating 400 million variants from 80,000 human samples with extensive annotations: towards a knowledge base to analyze disease cohorts

Type PubMed PMC PDF and Total
    Supplement  
Substitution 617,693 853,487 5,804,542  
dbSNP 102,040 222,310 4,433,018  
Insertion 3,072 2,252 17,640  
Duplication 875 1,263 5,522  
Repeat 42 76 339  
Deletion 19,987 27,192 69,326  
Insdel 202 290 2,061  
Frameshift 2,185 3,065 28,405  
Structural 15,347 6,143 5,642,341  
Total non-unique 761,449 1,116,093 15,802,854  
– with dbSNP ID 261,881 381,500 4,743,471  
Total unique 203,055 201,597 4,221,952  
Total unique mapped to allele a 101,652 122,393 727,602 890,665
  1. aIn case amino acid changes were given in the literature, we counted only one allele that would lead to that change