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

Journal Information

Full Title: Hum Genomics

Abbreviation: Hum Genomics

Country: Unknown

Publisher: Unknown

Language: N/A

Publication Details

Subject Category: Genetics

Available in Europe PMC: Yes

Available in PMC: Yes

PDF Available: No

Transparency Score
4/6
66.7% Transparent
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Core Indicators
Evidence found in paper:

"all data are provided as "additional file 1"

Code Sharing
Evidence found in paper:

"Declarations Ethics approval and consent to participateThis study was conducted in accordance with the principles embodied in the Declaration of Helsinki and in accordance with Brazilian and Hospital Albert Einstein statutory requirements. Ethics committee approval was not applicable because this study did not involve live subjects or any kind of sensitive data. Consent for publicationAll authors are aware of, consented to and approved this publication. Competing interestsThe following authors are employees (received salary and other bonuses) of Hospital Israelita Albert Einstein: Caio Robledo D' Angioli Costa Quaio; Jose Ricardo Magliocco Ceroni; Michele Araújo Pereira; Anne Caroline Barbosa Teixeira; Renata Yoshiko Yamada; Vivian Pedigone Cintra; Eduardo Perrone; Marina De Franca Basto Silva; Kelin Chen; Renata Moldenhauer Minillo; Cheysa Arielly Biondo; Mariana Rezende Bandeira de Mello; Lais Rodrigues Moura; Amanda Thamires Batista do Nascimento; Karla de Oliveira Pelegrino; Larissa Barbosa de Lima; Luiza do Amaral Virmond; Carolina Araujo Moreno; Joana Rosa Marques Prota; Jessica Grasiela Araujo Espolaor; Thiago Yoshinaga Tonholo Silva; Gabriel Hideki Izuka Moraes; Gustavo Santos de Oliveira; Livia Maria Silva Moura; Marcel Pinheiro Caraciolo; Michel Chieregato Gretschischkin; Pedro Lui Nigro Chazanas; Rodrigo de Souza Reis; Carmen Melo Toledo; Fernanda Stussi Duarte Lage; 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 de Oliveira Filho. Competing interests The following authors are employees (received salary and other bonuses) of Hospital Israelita Albert Einstein: Caio Robledo D' Angioli Costa Quaio; Jose Ricardo Magliocco Ceroni; Michele Araújo Pereira; Anne Caroline Barbosa Teixeira; Renata Yoshiko Yamada; Vivian Pedigone Cintra; Eduardo Perrone; Marina De Franca Basto Silva; Kelin Chen; Renata Moldenhauer Minillo; Cheysa Arielly Biondo; Mariana Rezende Bandeira de Mello; Lais Rodrigues Moura; Amanda Thamires Batista do Nascimento; Karla de Oliveira Pelegrino; Larissa Barbosa de Lima; Luiza do Amaral Virmond; Carolina Araujo Moreno; Joana Rosa Marques Prota; Jessica Grasiela Araujo Espolaor; Thiago Yoshinaga Tonholo Silva; Gabriel Hideki Izuka Moraes; Gustavo Santos de Oliveira; Livia Maria Silva Moura; Marcel Pinheiro Caraciolo; Michel Chieregato Gretschischkin; Pedro Lui Nigro Chazanas; Rodrigo de Souza Reis; Carmen Melo Toledo; Fernanda Stussi Duarte Lage; 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 de Oliveira Filho."

Evidence found in paper:

"Funding This study was funded by Hospital Israelita Albert Einstein."

Protocol Registration
Open Access
Paper is freely available to read
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Assessment Info

Tool: rtransparent

OST Version: N/A

Last Updated: Aug 05, 2025