https://openalex.org/T11642
This cluster of papers focuses on the standards, guidelines, and tools for interpreting genetic variants, particularly in the context of clinical genomics and Mendelian disorders. It includes topics such as pathogenicity prediction, functional annotations, sequence interpretation, and the use of exome sequencing for identifying disease-causing variants.
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rdfs:label "Standards and Guidelines for Genetic Variant Interpretation"@en ;
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skos:definition "This cluster of papers focuses on the standards, guidelines, and tools for interpreting genetic variants, particularly in the context of clinical genomics and Mendelian disorders. It includes topics such as pathogenicity prediction, functional annotations, sequence interpretation, and the use of exome sequencing for identifying disease-causing variants."@en ;
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skos:prefLabel "Standards and Guidelines for Genetic Variant Interpretation"@en ;
openalex:cited_by_count 568155 ;
openalex:works_count 29519 .