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Low-pass whole genome sequencing as a cost-effective alternative to chromosomal microarray analysis for low- and middle-income countries.
Mazzonetto PC, Villela D, Krepischi ACV, Pierry PM, Bonaldi A, Almeida LGD, Paula MG, Bürger MC, de Oliveira AG, Fonseca GGG, Giugliani R, Riegel-Giugliani M, Bertola D, Yamamoto GL, Passos-Bueno MR, Campos GDS, Machado ACD, Mazzeu JF, Perrone E, Zechi-Ceide RM, Kokitsu-Nakata NM, Vieira TP, Steiner CE, Gil-da-Silva-Lopes VL, Vieira DKR, Boy R, de Pina-Neto JM, Scapulatempo-Neto C, Milanezi F, Rosenberg C. Mazzonetto PC, et al. Among authors: bonaldi a. Am J Med Genet A. 2024 Nov;194(11):e63802. doi: 10.1002/ajmg.a.63802. Epub 2024 Jun 25. Am J Med Genet A. 2024. PMID: 38924610
A Benchmark of In-House Homologous Recombination Repair Deficiency Testing Solutions for High-Grade Serous Ovarian Cancer Diagnosis.
Guarischi-Sousa R, Kroll JE, Bonaldi A, Pierry PM, Villela D, Souza CA, Silva JS, Bürger MC, Oliveira FA, de Paula MG, Meliso FM, de Almeida LG, Monfredini PM, de Oliveira AG, Milanezi F, Scapulatempo-Neto C, Yamamoto GL. Guarischi-Sousa R, et al. Among authors: bonaldi a. Diagnostics (Basel). 2023 Oct 24;13(21):3293. doi: 10.3390/diagnostics13213293. Diagnostics (Basel). 2023. PMID: 37958189 Free PMC article.
Low-pass whole genome sequencing is a reliable and cost-effective approach for copy number variant analysis in the clinical setting.
Mazzonetto PC, Villela D, da Costa SS, Krepischi ACV, Milanezi F, Migliavacca MP, Pierry PM, Bonaldi A, Almeida LGD, De Souza CA, Kroll JE, Paula MG, Guarischi-Sousa R, Scapulatempo-Neto C, Rosenberg C. Mazzonetto PC, et al. Among authors: bonaldi a. Ann Hum Genet. 2024 Mar;88(2):113-125. doi: 10.1111/ahg.12532. Epub 2023 Oct 9. Ann Hum Genet. 2024. PMID: 37807935
24 results