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

BMC Bioinformatics

Table 2 Description of sequencing datasets for germline variant refinement

ID	Sample	Platform	Coverage	Source
HG001_a	HG001	Illumina Hiseq 2000	88	1000 genomes
HG001_b	HG001	Illumina Xten	87	Our lab
HG001_c	HG001	Illumina Xten	85	Our lab
HG002	HG002	Illumina Hiseq 2500	226	GIAB
HG003	HG003	Illumina Hiseq 2500	193	GIAB
HG004	HG004	Illumina Hiseq 2500	214	GIAB

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/)

ISSN: 1471-2105