Article
The hospital Israelita Albert Einstein standards for constitutional sequence variants classification: version 2023.
Human genomics - 16 Nov 2023
Quaio Caio Robledo D'Angioli Costa, Ceroni José Ricardo Magliocco, Pereira Michele Araújo, Teixeira Anne Caroline Barbosa, Yamada Renata Yoshiko, Cintra Vivian Pedigone, Perrone Eduardo, De França Marina, Chen Kelin, Minillo Renata Moldenhauer, Biondo Cheysa Arielly, de Mello Mariana Rezende Bandeira, Moura Lais Rodrigues, do Nascimento Amanda Thamires Batista, de Oliveira Pelegrino Karla, de Lima Larissa Barbosa, do Amaral Virmond Luiza, Moreno Carolina Araujo, Prota Joana Rosa Marques, de Araujo Espolaor Jessica Grasiela, Silva Thiago Yoshinaga Tonholo, Moraes Gabriel Hideki Izuka, de Oliveira Gustavo Santos, Moura Livia Maria Silva, Caraciolo Marcel Pinheiro, Guedes Rafael Lucas Muniz, Gretschischkin Michel Chieregato, Chazanas Pedro Lui Nigro, Nakamura Carolina Naomi Izo, de Souza Reis Rodrigo, Toledo Carmen Melo, Lage Fernanda Stussi Duarte, de Almeida Giovanna Bloise, do Nascimento Júnior José Bandeira, Cardoso Milena Andreuzo, de Paula Azevedo Victor, de Almeida Tatiana Ferreira, Cervato Murilo Castro, de Oliveira Filho Joao Bosco
Abstract excerpt
BACKGROUND: 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...
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