The hospital Israelita Albert Einstein standards for constitutional sequence variants classification: version 2023
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Published:2023-11-16
Issue:1
Volume:17
Page:
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ISSN:1479-7364
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Container-title:Human Genomics
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language:en
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Short-container-title:Hum Genomics
Author:
Quaio Caio Robledo D’Angioli CostaORCID, Ceroni José Ricardo MaglioccoORCID, Pereira Michele AraújoORCID, Teixeira Anne Caroline BarbosaORCID, Yamada Renata Yoshiko, Cintra Vivian PedigoneORCID, Perrone EduardoORCID, De França MarinaORCID, Chen KelinORCID, Minillo Renata MoldenhauerORCID, 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 LuizaORCID, Moreno Carolina AraujoORCID, Prota Joana Rosa MarquesORCID, de Araujo Espolaor Jessica GrasielaORCID, Silva Thiago Yoshinaga TonholoORCID, Moraes Gabriel Hideki IzukaORCID, de Oliveira Gustavo SantosORCID, Moura Livia Maria SilvaORCID, Caraciolo Marcel PinheiroORCID, Guedes Rafael Lucas Muniz, Gretschischkin Michel ChieregatoORCID, Chazanas Pedro Lui NigroORCID, Nakamura Carolina Naomi IzoORCID, de Souza Reis RodrigoORCID, Toledo Carmen MeloORCID, Lage Fernanda Stussi DuarteORCID, de Almeida Giovanna BloiseORCID, do Nascimento Júnior José BandeiraORCID, Cardoso Milena AndreuzoORCID, de Paula Azevedo VictorORCID, de Almeida Tatiana FerreiraORCID, Cervato Murilo CastroORCID, de Oliveira Filho Joao BoscoORCID
Abstract
Abstract
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 Hospital Israelita Albert Einstein Standards for Constitutional Sequence Variants Classification, incorporating modifications from leading genetics societies and the ClinGen initiative.
Results
First, we standardized the scientific publications, documents, and other reliable sources for this document to ensure an evidence-based approach. Next, we defined the databases that would provide variant information for the classification process, established the terminology for molecular findings, set standards for disease-gene associations, and determined the nomenclature for classification criteria. Subsequently, we defined the general rules for variant classification and the Bayesian statistical reasoning principles to enhance this process. We also defined bioinformatics standards for automated classification. Our workgroup adhered to gene-specific rules and workflows curated by the ClinGen Variant Curation Expert Panels whenever available. Additionally, a distinct set of specifications for criteria modulation was created for cancer genes, recognizing their unique characteristics.
Conclusions
The development of an internal consensus and standards for constitutional sequence variant classification, specifically adapted to the Brazilian population, further contributes to the continuous refinement of variant classification practices. The aim of these efforts from the workgroup is to enhance the reliability and uniformity of variant classification.
Publisher
Springer Science and Business Media LLC
Subject
Drug Discovery,Genetics,Molecular Biology,Molecular Medicine
Reference31 articles.
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