Table 3.

List of case studies where WGS was used as a diagnostic test.

S. no.	Rare disease	Sex	Gene	Mode of inheritance	Genomic variant
1	Battens disease	F	MFSD8	AR	• c.1102G → C NM_152778.3• 2 kb SVA insertion
2	Pulmonary arterial hypertension	M, F	ATP13A3, AQP1, SOX17, GDF2	X linked, AR, Ht	• c.583 C > T (p.R195W) • c.527T > A(p.Val176Glu)• c.411C>G(p.Y137*)
3	Atypical hemolytic uremic syndrome	M, F	CFH, MCP, CFI, CFB, C3, THBD, DGKE	AR	c.888 + 40A>G (intronic)
4	Niemann-Pick type C disease	M	NPC1	AR	c.2713 C > T (p.Gln905Ter)
5	Dopa (3,4 dihydroxyphenylalanine) – responsive dystonia	M, F	SPR	Ht	• c.448A>G NM_003124• c.751A>T NM_003124

Note: Examples of rare disease where WGS was employed as the genetic diagnostic test.

F: female; M: male; AR: autosomal recessive; Ht: heterozygous.