Exome sequencing of 500 Brazilian patients with rare diseases
what we have learned
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References
Quaio CRDC, Moreira CM, Novo-Filho GM, et al. Diagnostic power and clinical impact of exome sequencing in a cohort of 500 patients with rare diseases. Am J Med Genet C Semin Med Genet. 2020;184(4):955-64. PMID: 33258288; https://doi.org/10.1002/ajmg.c.31860.
Kalia SS, Adelman K, Bale SJ, et al. Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. Genet Med. 2017;19(4):484. Genet Med. 2017;19(2):249-255. PMID: 27854360; https://doi.org/10.1038/gim.2016.190.
Johnston JJ, Rubinstein WS, Facio FM, et al. Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes. Am J Hum Genet. 2012;91(1):97-108. PMID: 22703879; https://doi.org/10.1016/j.ajhg.2012.05.021.
Lawrence L, Sincan M, Markello T, et al. The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience. Genet Med. 2014;16(10):741-50. PMID: 24784157; https://doi.org/10.1038/gim.2014.29.
Quaio CRDC, Chung CH, Perazzio SF, et al. Frequency of carriers for rare recessive Mendelian diseases in a Brazilian cohort of 320 patients. Am J Med Genet C Semin Med Genet. 2021;187(3):364-72. PMID: 34269512; https://doi.org/10.1002/ajmg.c.31932.
Quaio CRAC, Moreira CM, Chung CH, et al. Frequency of carriers for rare metabolic diseases in a Brazilian cohort of 320 patients. Mol Biol Rep. 2022;49(5):3911-3918. PMID: 35229241;https://doi.org/10.1007/s11033-022-07241-3.
