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The expanding diagnostic toolbox for rare genetic diseases - Nature Reviews Genetics

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The expanding diagnostic toolbox for rare genetic diseases - Nature Reviews Genetics

Genomic technologies, such as targeted, exome and short-read genome sequencing approaches, have revolutionized the care of patients with rare genetic diseases. However, more than half of patients remain without a diagnosis. Emerging approaches from research-based settings such as long-read genome sequencing and optical genome mapping hold promise for improving the identification of disease-causal genetic variants.

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The expanding diagnostic toolbox for rare genetic diseases - Nature Reviews Genetics

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The expanding diagnostic toolbox for rare genetic diseases - Nature Reviews Genetics

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