. 2018 Feb 1;46(5):2159–2168. doi: 10.1093/nar/gky066

Table 2. Applications of human SMRT sequencing and clinical utility.

Target	Disease	Ref.
Tandem repeat sequencing
FMR1	Fragile X Syndrome	(43)^a
HTT	Huntington's Disease	a
C9orf72	Amyotrophic Lateral Sclerosis (ALS)	a
SCA10	Spinocerebellar ataxia type 10, Parkinson's disease	(10,53)^a
Highly polymorphic regions
HLA	Autoimmune disorders & transplantation	(57–59)
KIR	Autoimmune diseases & transplantation	(60)
Pseudogene discrimination
CYP2D6	Drug metabolism	(61,63)
PKD1	Autosomal-dominant polycystic kidney disease	(64)
IKBKG	Primary immunodeficiency diseases	(65)
Cancer
BCR-ABL1	Chronic Myeloid Leukemia (CML)	(69)
TP53	Myelodysplastic Syndromes (MDS) and Acute Myeloblastic Leukemia (AML)	(70)
Reproductive genomics
TCOF1	Treacher Collins syndrome	(67)
PTPN11	Noonan syndrome	(67)