{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["17(1)"],"submitter":["Quaio CRDC"],"pubmed_abstract":["<h4>Background</h4>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.<h4>Results</h4>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"],"journal":["Human genomics"],"pagination":["102"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC10652504"],"repository":["biostudies-literature"],"pubmed_title":["The hospital Israelita Albert Einstein standards for constitutional sequence variants classification: version 2023."],"pmcid":["PMC10652504"],"pubmed_authors":["Ceroni JRM","Perrone E","Moraes GHI","Pereira MA","Prota JRM","Minillo RM","do Amaral Virmond L","do Nascimento ATB","Chazanas PLN","Toledo CM","Moreno CA","de Oliveira Filho JB","de Almeida GB","Yamada RY","Cervato MC","Lage FSD","Silva TYT","de Souza Reis R","De Franca M","de Almeida TF","Chen K","de Mello MRB","Guedes RLM","Cintra VP","de Araujo Espolaor JG","Moura LMS","Moura LR","de Lima LB","Nakamura CNI","Gretschischkin MC","Biondo CA","de Oliveira Pelegrino K","Cardoso MA","de Paula Azevedo V","de Oliveira GS","Quaio CRDC","Caraciolo MP","do Nascimento Junior JB","Teixeira ACB"],"additional_accession":[]},"is_claimable":false,"name":"The hospital Israelita Albert Einstein standards for constitutional sequence variants classification: version 2023.","description":"<h4>Background</h4>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.<h4>Results</h4>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","dates":{"release":"2023-01-01T00:00:00Z","publication":"2023 Nov","modification":"2025-04-04T09:30:37.176Z","creation":"2024-11-14T13:14:46.496Z"},"accession":"S-EPMC10652504","cross_references":{"pubmed":["37968704"],"doi":["10.1186/s40246-023-00549-6"]}}