Alpha 2.0
Login Register
» Articles » PMID: 36102462

Exome Sequencing of 500 Brazilian Patients with Rare Diseases: What We Have Learned

Overview
Journal Sao Paulo Med J
Specialty General Medicine
Date 2022 Sep 14
PMID 36102462
Authors
Caio Robledo DAngioli Costa Quaio
Caroline Monaco Moreira
Christine Hsiaoyun Chung
Sandro Felix Perazzio
Aurelio Pimenta Dutra
Chong Ae Kim
Affiliations
Soon will be listed here.
Citing Articles

Population molecular genetics in Brazil: From genomic databases and research to the implementation of precision medicine.

de Oliveira T, Lopes-Cendes I J Community Genet. 2024; .

PMID: 39557816 DOI: 10.1007/s12687-024-00752-5.

Decoding complex inherited phenotypes in rare disorders: the DECIPHERD initiative for rare undiagnosed diseases in Chile.

Poli M, Rebolledo-Jaramillo B, Lagos C, Orellana J, Moreno G, Martin L Eur J Hum Genet. 2024; 32(10):1227-1237.

PMID: 38177409 PMC: 11499817. DOI: 10.1038/s41431-023-01523-5.

References
1.
Johnston J, Rubinstein W, Facio F, Ng D, Singh L, Teer J . 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. PMC: 3397257. DOI: 10.1016/j.ajhg.2012.05.021. View
2.
Quaio C, Moreira C, Novo-Filho G, Sacramento-Bobotis P, Penna M, Perazzio S . 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):955-964. DOI: 10.1002/ajmg.c.31860. View
3.
Lawrence L, Sincan M, Markello T, Adams D, Gill F, Godfrey R . The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience. Genet Med. 2014; 16(10):741-50. PMC: 4190001. DOI: 10.1038/gim.2014.29. View
4.
Quaio C, Moreira C, Chung C, Perazzio S, Dutra A, Kim C . Frequency of carriers for rare metabolic diseases in a Brazilian cohort of 320 patients. Mol Biol Rep. 2022; 49(5):3911-3918. DOI: 10.1007/s11033-022-07241-3. View
5.
Quaio C, Chung C, Perazzio S, Dutra A, Moreira C, Novo Filho G . 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):364-372. DOI: 10.1002/ajmg.c.31932. View