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HipSci HumanHT 12 Expression BeadChip analysis - Hereditary Cerebellar Ataxias

ABSTRACT: The HipSci project brings together diverse constituents in genomics, proteomics, cell biology and clinical genetics to create a UK national iPS cell resource and use it to carry out cellular genetic studies. In this sub-study we performed Expression analysis using the Illumina HumanHT -12 Expression BeadChip on iPS cells generated from skin biopsies or blood samples from rare disease patients diagnosed with Hereditary Cerebellar Ataxias.

PROVIDER: EGAS00001002020 | EGA |

REPOSITORIES: EGA

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HipSci HumanExome BeadChip analysis - Hereditary Cerebellar Ataxias

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Project description:HipSci - Hereditary Cerebellar Ataxias - Expression Array - July 2017

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Project description:HipSci - Hereditary Cerebellar Ataxias - Genotyping Array - July 2017

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Project description:The HipSci project brings together diverse constituents in genomics, proteomics, cell biology and clinical genetics to create a UK national iPS cell resource and use it to carry out cellular genetic studies. In this sub-study we performed Expression analysis using the Illumina HumanHT -12 Expression BeadChip on iPS cells generated from skin biopsies from healthy volunteers.

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Cerebellar abiotrophy in working Kelpies with a later clinical onset

Project description:Australian working Kelpie dogs are known to be affected with an autosomal recessive form of inherited cerebellar ataxia (cerebellar abiotrophy, CA) that is characterised by a degeneration of Purkinje and granule cells in the cerebellar cortex. The clinical signs of CA include cerebellar ataxia, head tremor, motor in-coordination, wide based stance and high stepping gait, with varied clinical onset age. The clinical and pathological features are similar to cerebellar ataxias in humans. The genome-wide association study on a group of working Kelpies affected with the later onset form of CA identified a region on chromosome 9 to be strongly associated with the disease phenotype. Homozygosity analysis and whole genome sequencing identified a missense single nucleotide polymorphism, that segregated with the CA phenotype.

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Comparison of normalization methods for Illumina BeadChip HumanHT-12 v3.

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