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

Autor:	Quaio CRDC; Laboratório Clínico, Hospital Israelita Albert Einstein, Av. Albert Einstein 627, São Paulo, SP, CEP 05652-000, Brazil. caio.quaio@einstein.br., Ceroni JRM; Laboratório Clínico, Hospital Israelita Albert Einstein, Av. Albert Einstein 627, São Paulo, SP, CEP 05652-000, Brazil., Pereira MA; Laboratório Clínico, Hospital Israelita Albert Einstein, Av. Albert Einstein 627, São Paulo, SP, CEP 05652-000, Brazil.; VarsOmics, Hospital Israelita Albert Einstein, São Paulo, SP, Brazil., Teixeira ACB; Laboratório Clínico, Hospital Israelita Albert Einstein, Av. Albert Einstein 627, São Paulo, SP, CEP 05652-000, Brazil., Yamada RY; Laboratório Clínico, Hospital Israelita Albert Einstein, Av. Albert Einstein 627, São Paulo, SP, CEP 05652-000, Brazil., Cintra VP; Laboratório Clínico, Hospital Israelita Albert Einstein, Av. Albert Einstein 627, São Paulo, SP, CEP 05652-000, Brazil., Perrone E; Laboratório Clínico, Hospital Israelita Albert Einstein, Av. Albert Einstein 627, São Paulo, SP, CEP 05652-000, Brazil., De França M; Laboratório Clínico, Hospital Israelita Albert Einstein, Av. Albert Einstein 627, São Paulo, SP, CEP 05652-000, Brazil., Chen K; Laboratório Clínico, Hospital Israelita Albert Einstein, Av. Albert Einstein 627, São Paulo, SP, CEP 05652-000, Brazil., Minillo RM; Laboratório Clínico, Hospital Israelita Albert Einstein, Av. Albert Einstein 627, São Paulo, SP, CEP 05652-000, Brazil., Biondo CA; Laboratório Clínico, Hospital Israelita Albert Einstein, Av. Albert Einstein 627, São Paulo, SP, CEP 05652-000, Brazil., de Mello MRB; Laboratório Clínico, Hospital Israelita Albert Einstein, Av. Albert Einstein 627, São Paulo, SP, CEP 05652-000, Brazil., Moura LR; Laboratório Clínico, Hospital Israelita Albert Einstein, Av. Albert Einstein 627, São Paulo, SP, CEP 05652-000, Brazil., do Nascimento ATB; Laboratório Clínico, Hospital Israelita Albert Einstein, Av. Albert Einstein 627, São Paulo, SP, CEP 05652-000, Brazil., de Oliveira Pelegrino K; Laboratório Clínico, Hospital Israelita Albert Einstein, Av. Albert Einstein 627, São Paulo, SP, CEP 05652-000, Brazil., de Lima LB; Laboratório Clínico, Hospital Israelita Albert Einstein, Av. Albert Einstein 627, São Paulo, SP, CEP 05652-000, Brazil., do Amaral Virmond L; Laboratório Clínico, Hospital Israelita Albert Einstein, Av. Albert Einstein 627, São Paulo, SP, CEP 05652-000, Brazil., Moreno CA; Laboratório Clínico, Hospital Israelita Albert Einstein, Av. Albert Einstein 627, São Paulo, SP, CEP 05652-000, Brazil., Prota JRM; Laboratório Clínico, Hospital Israelita Albert Einstein, Av. Albert Einstein 627, São Paulo, SP, CEP 05652-000, Brazil., de Araujo Espolaor JG; Laboratório Clínico, Hospital Israelita Albert Einstein, Av. Albert Einstein 627, São Paulo, SP, CEP 05652-000, Brazil., Silva TYT; Laboratório Clínico, Hospital Israelita Albert Einstein, Av. Albert Einstein 627, São Paulo, SP, CEP 05652-000, Brazil., Moraes GHI; Laboratório Clínico, Hospital Israelita Albert Einstein, Av. Albert Einstein 627, São Paulo, SP, CEP 05652-000, Brazil.; VarsOmics, Hospital Israelita Albert Einstein, São Paulo, SP, Brazil., de Oliveira GS; Laboratório Clínico, Hospital Israelita Albert Einstein, Av. Albert Einstein 627, São Paulo, SP, CEP 05652-000, Brazil.; VarsOmics, Hospital Israelita Albert Einstein, São Paulo, SP, Brazil., Moura LMS; Laboratório Clínico, Hospital Israelita Albert Einstein, Av. Albert Einstein 627, São Paulo, SP, CEP 05652-000, Brazil.; VarsOmics, Hospital Israelita Albert Einstein, São Paulo, SP, Brazil., Caraciolo MP; Laboratório Clínico, Hospital Israelita Albert Einstein, Av. Albert Einstein 627, São Paulo, SP, CEP 05652-000, Brazil.; VarsOmics, Hospital Israelita Albert Einstein, São Paulo, SP, Brazil., Guedes RLM; Laboratório Clínico, Hospital Israelita Albert Einstein, Av. Albert Einstein 627, São Paulo, SP, CEP 05652-000, Brazil.; VarsOmics, Hospital Israelita Albert Einstein, São Paulo, SP, Brazil., Gretschischkin MC; Laboratório Clínico, Hospital Israelita Albert Einstein, Av. Albert Einstein 627, São Paulo, SP, CEP 05652-000, Brazil.; VarsOmics, Hospital Israelita Albert Einstein, São Paulo, SP, Brazil., Chazanas PLN; Laboratório Clínico, Hospital Israelita Albert Einstein, Av. Albert Einstein 627, São Paulo, SP, CEP 05652-000, Brazil.; VarsOmics, Hospital Israelita Albert Einstein, São Paulo, SP, Brazil., Nakamura CNI; Laboratório Clínico, Hospital Israelita Albert Einstein, Av. Albert Einstein 627, São Paulo, SP, CEP 05652-000, Brazil.; VarsOmics, Hospital Israelita Albert Einstein, São Paulo, SP, Brazil., de Souza Reis R; Laboratório Clínico, Hospital Israelita Albert Einstein, Av. Albert Einstein 627, São Paulo, SP, CEP 05652-000, Brazil.; VarsOmics, Hospital Israelita Albert Einstein, São Paulo, SP, Brazil., Toledo CM; Laboratório Clínico, Hospital Israelita Albert Einstein, Av. Albert Einstein 627, São Paulo, SP, CEP 05652-000, Brazil.; VarsOmics, Hospital Israelita Albert Einstein, São Paulo, SP, Brazil., Lage FSD; Laboratório Clínico, Hospital Israelita Albert Einstein, Av. Albert Einstein 627, São Paulo, SP, CEP 05652-000, Brazil.; VarsOmics, Hospital Israelita Albert Einstein, São Paulo, SP, Brazil., de Almeida GB; Laboratório Clínico, Hospital Israelita Albert Einstein, Av. Albert Einstein 627, São Paulo, SP, CEP 05652-000, Brazil.; VarsOmics, Hospital Israelita Albert Einstein, São Paulo, SP, Brazil., do Nascimento Júnior JB; Laboratório Clínico, Hospital Israelita Albert Einstein, Av. Albert Einstein 627, São Paulo, SP, CEP 05652-000, Brazil.; VarsOmics, Hospital Israelita Albert Einstein, São Paulo, SP, Brazil., Cardoso MA; Laboratório Clínico, Hospital Israelita Albert Einstein, Av. Albert Einstein 627, São Paulo, SP, CEP 05652-000, Brazil.; VarsOmics, Hospital Israelita Albert Einstein, São Paulo, SP, Brazil., de Paula Azevedo V; Laboratório Clínico, Hospital Israelita Albert Einstein, Av. Albert Einstein 627, São Paulo, SP, CEP 05652-000, Brazil.; VarsOmics, Hospital Israelita Albert Einstein, São Paulo, SP, Brazil., de Almeida TF; Laboratório Clínico, Hospital Israelita Albert Einstein, Av. Albert Einstein 627, São Paulo, SP, CEP 05652-000, Brazil., Cervato MC; Laboratório Clínico, Hospital Israelita Albert Einstein, Av. Albert Einstein 627, São Paulo, SP, CEP 05652-000, Brazil.; VarsOmics, Hospital Israelita Albert Einstein, São Paulo, SP, Brazil., de Oliveira Filho JB; Laboratório Clínico, Hospital Israelita Albert Einstein, Av. Albert Einstein 627, São Paulo, SP, CEP 05652-000, Brazil. joao.bosco@einstein.br.
Jazyk:	angličtina
Zdroj:	Human genomics [Hum Genomics] 2023 Nov 16; Vol. 17 (1), pp. 102. Date of Electronic Publication: 2023 Nov 16.
DOI:	10.1186/s40246-023-00549-6
Abstrakt:	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. (© 2023. The Author(s).)
Databáze:	MEDLINE
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