… unified repository for disease-related genetic variation in the … engineered mutations (eg
mutagenesis experiments looking … results derived from its comprehensive mutation data set. The …

… Today, genetic mutations responsible … extensive data quality assessment to ensure authentic,
up-to-date and standardized information. Our database is freely available public repository …

… included for a more comprehensive variant interpretation. This … community a new approach
to genetic variant interpretation. … enhance variant interpretation and clinical decision-making. …

… its approach to cover the entire human genome and all types of … The minimum unit of curation
is: a genetic variant, tumour … manual searching in clinical trial repositories and the scientific …

… Variant Curation Interface (VCI), which is a comprehensive … to the ClinGen Evidence
Repository. All data are saved in a … Here we present the development of a genetic variant …

… of this database was to provide a central repository of data to … assay for readily generating
gene mutation data as a function … , the database should be useful in providing comprehensive …

… In recent years, clinical genetic testing has expanded … of variant features led by the variant
name in Human Genome … potentially be linked to other variant repositories such as HGMD (15) …

… ‘full’ with one annotation per line (see our new video https://youtu.be/jKix2B3hwnw). The
most-used tracks on the human genome are the various gene … origins, and clinically-significant …

… of data repositories which combine clinical and genetic data for … Variant nomenclature
followed standard Human Genome … b Gene variant centered approach to analyze de novo …

… , and variation within the human genome is accruing at an … and knowledge to create a
comprehensive and publicly available … to critical case repositories to build supporting evidence, …