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References
1.
GnirkeA, MelnikovA, MaguireJ, et al.Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing. Nat Biotechnol, 2009; 27 (2): 182–189.
2.
ChoiM, SchollUI, JiW, et al.Genetic diagnosis by whole exome capture and massively parallel DNA sequencing. Proc Natl Acad Sci U S A, 2009; 106 (45): 19096–19101.
3.
JordanCT, CaoL, RobersonED, et al.Rare and common variants in CARD14, encoding an epidermal regulator of NF-kappaB, in psoriasis. Am J Hum Genet, 2012; 90 (5): 796–808.
4.
JordanCT, CaoL, RobersonED, et al.PSORS2 is due to mutations in CARD14. Am J Hum Genet, 2012; 90 (5): 784–795.
5.
CullinaneAR, VilbouxT, O’BrienK, et al.Homozygosity mapping and whole-exome sequencing to detect SLC45A2 and G6PC3 mutations in a single patient with oculocutaneous albinism and neutropenia. J Invest Dermatol, 2011; 131 (10): 2017–2025.
6.
NgSB, BuckinghamKJ, LeeC, et al.Exome sequencing identifies the cause of a mendelian disorder. Nat Genet, 2010; 42 (1): 30–35.
