Assessing structural variation in a personal genome—towards a human reference diploid genome

BMC Genomics

Table 1 HS1011 data sources

Data	Type	Resolution	Source
WGS Illumina HiSeq	NGS	48X 100x100 bp paired-end	[26]
WGS Illumina Nextera	NGS	2X 100x100 bp 6.5 kbp mate-pair inserts	Methods
WGS SOLiD	NGS	3X 35 bp fragment 10X 25x25 bp paired-end 17X 50x50 bp paired-end	[25,26]
WGS PacBio	Long-Read	10X ~10,000 bp	Methods
Agilent 1 M	aCGH	1-million-probe oligo array	[26]
NimbleGen 2.1 M	aCGH	2.1-million-probe oligo array	[26]
NimbleGen 4.2 M	aCGH	4.2-million-probe oligo array	Methods
Custom Agilent Exon Array	aCGH	44,000 neuropathy-specific oligo array	[26]
BioNano Irys	Genome Mapping	Single-molecule genome architecture	Methods
Sanger-Validated Deletions	Manual	42 fully resolved deletions	Methods

Previously published HS1011 data are indicated with literature references, and data new to the present work are described in Methods.

ISSN: 1471-2164