Annotate-it: a Swiss-knife approach to annotation, analysis and interpretation of single nucleotide variation in human disease

Table 2 Statistics of initial exomes used for randomizations

	Sample identifier
Sample identifier	1	2	3	4	5	6	7	8
Platform	GAII	GAII	GAII	GAII	HiSEQ	HiSEQ	HiSEQ	HiSEQ
Essential splice site mutations	178	120	137	134	47	45	49	44
Nonsense mutations	99	88	95	108	101	60	68	68
Nonsynonymous mutations	8,864	7,468	8,039	8,246	7,925	6,715	6,487	6,560
Synonymous mutations	8,409	7,214	7,756	8,065	8,500	7,676	7,347	7,597
UTR mutations	3,839	3,216	3,080	3,264	4,264	1,443	1,421	1,367

Eight previously acquired exomes were used to generate 8,000 synthetic exomes by randomization. The initial exomes were sequenced by either Illumina GA2 or Illumina HiSeq 2000, then aligned with BWA and variants were called using the GATK pipeline.

ISSN: 1756-994X