<p>This study reports long-range and high-resolution repeat sizing of the <i>C9orf72</i> repeat region for 2095 samples from the National Institute of Neurological Disorders and Stroke (NINDS) repository's ALS collection. Genomic DNA samples were analyzed with a PCR assay (AmplideX® PCR/CE C9orf72 Kit) and resolved on capillary electrophoresis. Expanded samples were also analyzed using a gene-specific assay and resolved by capillary electrophoresis (up to 145 GGGGCC hexanucleotide repeats) and AGE agarose gel electrophoresis (up to 950 hexanucleotide repeats, respectively).</p>

C9ORF72 Hexanucleotide Repeat Sequence Genotyping Project

Amyotrophic Lateral Sclerosis study with CNV Genotypes data on dbGaP (2,095 participants)

C9ORF72 Hexanucleotide Repeat Sequence Genotyping Project

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Summary