Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation

Article Genetics & Heredity

Data sharing to improve concordance in variant interpretation across laboratories: results from the Canadian Open Genetics Repository

Chloe Mighton et al.

Summary: Using the COGR platform, this study successfully reduced discordant variant interpretations among clinical molecular genetic laboratories, providing a standardized mechanism for improving accuracy in genetic test result delivery.

JOURNAL OF MEDICAL GENETICS (2022)

添加到收藏夹

Article Genetics & Heredity

The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources

Marina T. DiStefano et al.

Summary: This study addresses the lack of universal standards and terminologies in defining gene-disease relationships. The Gene Curation Coalition (GenCC) was formed to establish harmonized definitions and develop a unified database. The results show that conflicts in gene-disease validity assertions exist, highlighting the importance of standardization and collaboration in genetic testing and variant interpretation.

GENETICS IN MEDICINE (2022)

添加到收藏夹

Article Biochemistry & Molecular Biology

The Human Phenotype Ontology in 2021

Sebastian Koehler et al.

Summary: The Human Phenotype Ontology (HPO) serves as a global standard for phenotype exchange, with recent major extensions in neurology, nephrology, immunology, pulmonology, and other fields. Efforts have been made to improve computational definitions of phenotypic abnormalities across HPO and multiple phenotype ontologies for animal disease models, benefiting software accuracy and cross-species phenotype matching. Recent initiatives include translating HPO into indigenous languages and advancing its use in electronic health record systems.

NUCLEIC ACIDS RESEARCH (2021)

添加到收藏夹

Review Genetics & Heredity

Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution

Zornitza Stark et al.

Summary: A systematic comparison of 80 virtual gene panels used by multiple diagnostic providers in the UK and Australia was conducted, resulting in the identification and review of 2,144 discordant gene ratings using the shared curation platform PanelApp. This study highlights the utility of sharing structured gene-disease validity assessments and collaborative discordance resolution in establishing national and international consensus.

AMERICAN JOURNAL OF HUMAN GENETICS (2021)

添加到收藏夹

Article Biochemistry & Molecular Biology

Ensembl 2021

Kevin L. Howe et al.

Summary: The Ensembl project provides genome annotation and data dissemination services for vertebrate species, including detailed annotation of gene structures, regulatory elements, and variants, as well as inferring the evolutionary history of genes and genomes. They offer integrated genomic data through various means such as genome browsers, search interfaces, specialist tools, and download files. Recent developments include the Ensembl Rapid Release and the SARS-CoV-2 genome browser, aiding in the international scientific response to the COVID-19 pandemic.

NUCLEIC ACIDS RESEARCH (2021)

添加到收藏夹

Article Genetics & Heredity