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Table 2 Description of sequencing datasets for germline variant refinement

From: VariFAST: a variant filter by automated scoring based on tagged-signatures

IDSamplePlatformCoverageSource
HG001_aHG001Illumina Hiseq 2000881000 genomes
HG001_bHG001Illumina Xten87Our lab
HG001_cHG001Illumina Xten85Our lab
HG002HG002Illumina Hiseq 2500226GIAB
HG003HG003Illumina Hiseq 2500193GIAB
HG004HG004Illumina Hiseq 2500214GIAB
  1. data set of HG001_a is available on the ftp site of 1000 genomes [16] (ftp://ftp.1000genomes.ebi.ac.uk/vol1/ftp/). data sets of HG001_b and HG001_c are sequenced by our lab. Data sets of Ashkenazim Trio including HG002, HG003 and HG004 are available on the ftp site of GIAB (ftp://ftp-trace.ncbi.nlm.nih.gov/giab/ftp/data/)