What Tools and Databases are Used for Variant Annotation?
Several tools and databases are commonly used for variant annotation: - ClinVar: A public archive of reports of the relationships among human variations and phenotypes. - dbSNP: A database that provides information about single nucleotide polymorphisms (SNPs). - HGMD: The Human Gene Mutation Database, which catalogs known gene mutations associated with human disease. - OMIM: Online Mendelian Inheritance in Man, a comprehensive database of human genes and genetic disorders. - GnomAD: The Genome Aggregation Database, which provides allele frequency data from a diverse set of populations.
