Article

The Clinical Genomic Variation Landscape

2025-11-06

Abstract excerpt

Interpreting genomic variation requires analysts to collate and process information from disparate genomic evidence resources to discern the contributions to diseases and drug responses. Differences in variant representation across these evidence repositories includes nomenclature (e.g., HGVS, SPDI), reference sequence context (e.g., GRCh37 or GRCh38 genome assemblies), sequence annotation sources (e.g., RefSeq or...

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Literature Corpus work: 12ed5561-868b-50ce-a92b-b367eeddaded
DOI: 10.1101/2025.11.04.25339115

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