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Genotyping single nucleotide polymorphisms for allele-selective therapy in Huntington disease.

Daniel O Claassen | Jody Corey-Bloom | E Ray Dorsey | Mary Edmondson | Sandra K Kostyk | Mark S LeDoux | Ralf Reilmann | H Diana Rosas | Francis Walker | Vicki Wheelock | Nenad Svrzikapa | Kenneth A Longo | Jaya Goyal | Serena Hung | Michael A Panzara
Neurology. Genetics | 2020

The huntingtin gene (HTT) pathogenic cytosine-adenine-guanine (CAG) repeat expansion responsible for Huntington disease (HD) is phased with single nucleotide polymorphisms (SNPs), providing targets for allele-selective treatments.

Pubmed ID: 32548276

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Associated grants

  • Agency: NCATS NIH HHS, United States
    Id: UL1 TR001420

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Genome Aggregation Database (tool)

RRID:SCR_014964

Database that aggregates exome and genome sequencing data from large-scale sequencing projects. The gnomAD data set contains individuals sequenced using multiple exome capture methods and sequencing chemistries. Raw data from the projects have been reprocessed through the same pipeline, and jointly variant-called to increase consistency across projects.

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