Key result
Combining lipidomics with other omics efficiently determines VUS pathogenicity and identifies rare genetic disorders.
Why the study?
The diagnostic rate of rare diseases remains below 50% despite Next-Generation Sequencing, creating a need for novel lipid biomarkers to resolve variants of unknown significance and monitor disease.
Design
Review
Authors
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May support VUS interpretation in rare metabolic diseases; leaves open prospective clinical validation.
Combining lipidomics with other omics approaches provides a unique tool for determining the pathogenicity of variants of unknown significance in rare metabolic diseases.
Zandl‐Lang et al. (2023) conducted a review in Rare metabolic diseases. Lipidomics was evaluated. Combining lipidomics with other omics approaches provides an efficient tool for determining the pathogenicity of variants of unknown significance and identifying rare genetic disorders.
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