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Pangenome graphs improve the analysis of structural variants in rare genetic diseases - Nature Communications

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Pangenome graphs improve the analysis of structural variants in rare genetic diseases - Nature Communications

Rare DNA alterations that cause heritable diseases are only partially resolvable by clinical next-generation sequencing due to the difficulty of detecting structural variation (SV) in all genomic contexts. Long-read, high fidelity genome sequencing (HiFi-GS) detects SVs with increased sensitivity and enables assembling personal and graph genomes.

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technology software cyber security computer security children diseases structural variants pangenome analysis

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Pangenome graphs improve the analysis of structural variants in rare genetic diseases - Nature Communications

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Pangenome graphs improve the analysis of structural variants in rare genetic diseases - Nature Communications

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