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Table 2 Sites with falsely-called variants in one or more technologies and their presence in several databases

From: Medical implications of technical accuracy in genome sequencing

 

Sites (n)

Total variants with bias

39,301

Total variants with bias in databases

7,467

ClinVar

4

ESP

38

1000 Genomes

89

dbSNP (v138)

7,363

COSMIC

123