Artigo Acesso aberto Produção Nacional Revisado por pares

The hospital Israelita Albert Einstein standards for constitutional sequence variants classification: version 2023

2023; BioMed Central; Volume: 17; Issue: 1 Linguagem: Inglês

10.1186/s40246-023-00549-6

ISSN

1479-7364

Autores

Caio Robledo D’Angioli Costa Quaio, José Ricardo Magliocco Ceroni, Michele Araújo Pereira, Anne Caroline Barbosa Teixeira, Renata Yoshiko Yamada, Vívian Pedigone Cintra, Eduardo Perrone, Marina de França, Kelin Chen, Renata Moldenhauer Minillo, Cheysa Arielly Biondo, Mariana Rezende Bandeira de Mello, Laís Rodrigues Moura, Amanda Thamires Batista do Nascimento, Karla de Oliveira Pelegrino, Larissa Barbosa de Lima, Luiza do Amaral Virmond, Carolina Moreno, Joana Rosa Marques Prota, Jessica Grasiela de Araujo Espolaor, Thiago Yoshinaga Tonholo Silva, Gabriel Hideki Izuka Moraes, Gustavo Santos de Oliveira, Livia Maria Silva Moura, Marcel Pinheiro Caraciolo, Rafael Lucas Muniz Guedes, Michel Chieregato Gretschischkin, Pedro Lui Nigro Chazanas, Carolina Naomi Izo Nakamura, Rodrigo de Souza Reis, Carmen Melo Toledo, Fernanda Stussi, Giovanna Bloise de Almeida, José Bandeira do Nascimento Júnior, Milena Andreuzo Cardoso, Victor de Paula Azevedo, Tatiana Ferreira de Almeida, Murilo Castro Cervato, João Bosco Oliveira,

Tópico(s)

Genetic factors in colorectal cancer

Resumo

Next-generation sequencing has had a significant impact on genetic disease diagnosis, but the interpretation of the vast amount of genomic data it generates can be challenging. To address this, the American College of Medical Genetics and Genomics and the Association for Molecular Pathology have established guidelines for standardized variant interpretation. In this manuscript, we present the updated Hospital Israelita Albert Einstein Standards for Constitutional Sequence Variants Classification, incorporating modifications from leading genetics societies and the ClinGen initiative.

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