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1
300 million people are affected by rare diseases globally.
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2
Up to 50% of cases remain undiagnosed with traditional diagnostic techniques.
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3
Whole Genome Sequencing (WGS) is recommended for comprehensive testing.
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4
Multidisciplinary collaboration is essential for accurate diagnoses.
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5
Sample quality and detailed clinical phenotyping impact diagnostic yield.
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6
Long-read sequencing and AI show promise for advancing rare disease diagnostics.
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7
Future diagnostics may become proactive and integrated into clinical systems.
Original Source(s)
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