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Molecular Inversion Probe Sequencing of ALS cases and controls

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NIAID Data Ecosystem2026-04-25 收录
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https://www.ncbi.nlm.nih.gov/sra/SRP228998
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资源简介:
Genes relevant to Amyotrophic Lateral Sclerosis (at time of panel design) were screened for variants in ALS cases and unaffected controls. 120 cases carried the C9orf72 hexanucleotide repeat expansion (HRE), while 119 cases were HRE negative. 144 unaffected controls were also sequenced for comparison. Rare variants were compared between groups to assess the contribution of multiple variants per individual (oligogenicity) in ALS.
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2020-05-05
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