Table 1.

Published studies utilizing massively parallel sequencing in the analysis of rare disorders

Disease	Model	Sequencing scope	Reference
Novel disease gene discovery
Miller syndrome	Autosomal recessive	Whole-genome, one family (two affected siblings and both parents)	18
Metachondromatosis	Autosomal dominant	Whole-genome, single proband	12
Miller syndrome	Autosomal recessive	Exome, four cases (two siblings, two other unrelated)	16
Schinzel–Giedion syndrome	Autosomal dominant	Exome, four unrelated cases	11
Fowler syndrome	Autosomal recessive	Exome, two unrelated cases	19
Kabuki syndrome	Autosomal dominant	Exome, 10 unrelated cases	13
Joubert syndrome 2	Autosomal recessive	Exomes of 2 individuals (mother and affected daughter)	15
Non-syndromic hearing loss (DFNB82)	Autosomal recessive	exome, single case	20
TARP syndrome	X-linked dominant	X chromosome exons, two unrelated carriers	21
Familial exudative vitreoretinopathy	Autosomal dominant	Linkage interval + 2 candidate genes, single proband	10
Clericuzio-type poikiloderma with neutropenia	Autosomal recessive	Linkage interval, single case	14
Sensory/motor neuropathy with ataxia	Autosomal dominant	Linkage interval, proband and both parents	8
Non-syndromic deafness (DFNB79)	Autosomal recessive	Linkage interval, single case	17
Clinical diagnosis
Congenital chloride-losing diarrhea	Autosomal recessive	Exome, single patient with suspected Bartter syndrome	23
Primary ciliary dyskinesia	Autosomal recessive	Exome, two siblings
Molecular diagnosis
Charcot–Marie–Tooth disease	Autosomal recessive	Whole-genome, single proband	22