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

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

SUBMITTER: Quaio CRDC 

PROVIDER: S-EPMC10652504 | biostudies-literature | 2023 Nov

REPOSITORIES: biostudies-literature