Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD): exome sequencing of trios, monozygotic twins and tumours

Table 2 Details of exome sequencing

Cohort	Sequencing site^a (Capture Kit, Sequencing platform, Aligner)	Participant ID	Description	Mean depth of coverage	Mean depth of coverage, cohort average (SD)	% of target region covered at least 20×	% of target region covered at least 20×, cohort average (SD)
Discovery cohort	ACHRI (Agilent SureSelect V5 + UTRs, Life Technologies SOLiD 5500xl, LifeScope 2.5)	18	Proband	141.4	132.7 (14.1)	91.88	931.79 (0.81)
		31	Mother of 18	143.9		91.62
		22	Father of 18	136		90.93
		37	Monozygotic twin of 18	133.5		90.97
		25	Proband	125.4		92.01
		51	Mother of 25	149.6		92.81
		50	Father of 25	151.2		92.84
		27	Proband	139.2		91.87
		32	Mother of 27	128		91.11
		33	Father of 27	126.3		90.94
		41	Proband	124.5		90.92
		47	Mother of 41	142.1		92.97
		46	Father of 41	139.4		92.65
		42	Proband	133.4		92.04
		43	Mother of 42	127.2		91.55
		44	Father of 42	119.1		90.91
		45	Proband	122.2		91.73
		48	Mother of 45	136.3		92.43
		49	Father of 45	165.1		93.58
		57	Proband	124.7		91.45
		59	Mother of 57	113.4		90.55
		58	Father of 57	98.5		91.57
ᅟ
		18	Tumour	257	249.8 (40)	94.74	95.11 (0.54)
		27	Tumour	290.2		95.15
		41	Tumour	258.3		95.85
		57	Tumour	193.9		94.69
ᅟ
Replication Cohort	WASH U (Illumina All Exon 65 MB, Illumina HiSeq 2000, NovoAlign 2.07.13)	5	Proband	86.9	86.9	82.70	82.70
	BGI (Agilent SureSelect V4, Illumina HiSeq 2000, BWA 0.5.9)	20	Proband	27.6	28.1 (1.7)	50.41	50.95 (1.79)
		21	Proband	31.7		54.78
		23	Proband	27.8		49.96
		24	Proband	27.2		50.70
		26	Proband	27.8		51.12
		28	Proband	28		50.53
		39	Proband	26.4		49.18
	Perkin Elmer Corp (Agilent SureSelect Human All Exon 38 MB, Illumina HiSeq 2000, Bowtie 0.12.7)	A032	Proband	76.6	76.6	65.96	65.96

^aACHRI: Alberta Children’s Hospital Research Institute, Calgary, Canada; WASH U: Washington University, St. Louis, USA; BGI: Beijing Genome Institute, Beijing, China

ISSN: 1750-1172