TABLE 3.

Proof-of-principle study results: Characteristics of each trio and exome sequencing summary statistics per individual, National Birth Defects Prevention Study, 1997–2011

Trio	Family member	Self-reported race/ethnicity	Colonic Atresiaa	Coverageb		Total variantsc
				Mean	Proportion at 20×
Tl	Proband	Non-Hispanic White	Type III	47.0	0.87	60,427
	Mother	Non-Hispanic White	Unaffected	60.5	0.94	62,597
	Father	Non-Hispanic White	Unaffected	62.9	0.94	63,064
T2	Proband	Hispanic	NOS	56.9	0.91	63,407
	Mother	Hispanic	Unaffected	64.0	0.93	64,183
	Father	Hispanic	Unaffected	73.3	0.94	63,261
T3	Proband	Hispanic	Type III	70.3	0.95	64,678
	Mother	Hispanic	Unaffected	66.7	0.94	64,185
	Father	Hispanic	Unaffected	55.9	0.89	63,316
T4	Proband	Non-Hispanic White	Type III	85.9	0.97	63,245
	Mother	Non-Hispanic White	Unaffected	70.5	0.94	62,667
	Father	Non-Hispanic White	Unaffected	76.6	0.95	62,717
T5	Proband	Hispanic	NOS	75.4	0.95	64,603
	Mother	Hispanic	Unaffected	93.8	0.96	65,470
	Father	Hispanic	Unaffected	78.7	0.90	63,642
T6	Proband	Non-Hispanic White	NOS	56.9	0.93	62,375
	Mother	Non-Hispanic White	Unaffected	60.4	0.94	61,776
	Father	Non-Hispanic White	Unaffected	73.9	0.95	63,442
T7	Proband	Hispanic	NOS	76.3	0.96	63,633
	Mother	Hispanic	Unaffected	64.7	0.94	62,758
	Father	Hispanic	Unaffected	66.4	0.94	64,007
T8	Proband	Hispanic	NOS	42.8	0.87	63,097
	Mother	Hispanic	Unaffected	45.0	0.88	60,733
	Father	Hispanic	Unaffected	48.1	0.89	63,087
Average				65.5	0.93	63,182

Abbreviation: NOS, not otherwise specified.

^aColonic atresia classification: Type III, characterized by a “V” shape in the mesentery with proximal and distal blind ends.

^bCoverage per specimen from Picard.

^cTotal number of variants from GEMINI v0.20.2.