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Long-read sequencing across the C9orf72 'GGGGCC' repeat expansion: implications for clinical use and genetic discovery efforts in human disease #154

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pnrobinson opened this issue Feb 6, 2021 · 1 comment
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Long-read sequencing across the C9orf72 'GGGGCC' repeat expansion: implications for clinical use and genetic discovery efforts in human disease #154

pnrobinson opened this issue Feb 6, 2021 · 1 comment
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https://pubmed.ncbi.nlm.nih.gov/29507423/
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https://pubmed.ncbi.nlm.nih.gov/30126445/

@pnrobinson pnrobinson changed the title How should we prioritize repeat expansions, and how should they be coded in HCA Long-read sequencing across the C9orf72 'GGGGCC' repeat expansion: implications for clinical use and genetic discovery efforts in human disease Jul 14, 2021
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