Article

<i>SwissGenVar</i>: A platform for clinical grade interpretation of genetic variants to foster personalized health care in Switzerland

2023-01-11

Abstract excerpt

Large-scale next-generation sequencing (NGS) germline testing is technically feasible today, but variant interpretation represents a major bottleneck in analysis workflows including the extensive variant prioritization, annotation, and time-consuming evidence curation. The scale of the interpretation problem is massive, and variants of uncertain significance (VUS) are a challenge to personalized medicine. This cha...

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Literature Corpus work: 2f6c3d7a-48df-51a8-b8b6-46e1d315e5ab
DOI: 10.1101/2023.01.11.22283790

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