Rare Diseases Symptoms Automatic Extraction

Rapid visualisation of microarray copy number data for the detection of structural variations linked to a disease phenotype.

[aniridia]

Whilst the majority of inherited diseases have been found to be caused by single base substitutions, small insertions or deletions (<1Kb), a significant proportion of genetic variability is due to copy number variation (CNV). The possible role of CNV in monogenic and complex diseases has recently attracted considerable interest. However, until the development of whole genome, oligonucleotide micro-arrays, designed specifically to detect the presence of copy number variation, it was not easy to screen an individual for the presence of unknown deletions or duplications with sizes below the level of sensitivity of optical microscopy (3-5 Mb). Now that currently available oligonucleotide micro-arrays have in excess of a million probes, the problem of copy number analysis has moved from one of data production to that of data analysis. We have developed CNViewer, to identify copy number variation that co-segregates with a disease phenotype in small nuclear families, from genome-wide oligonucleotide micro-array data. This freely available program should constitute a useful addition to the diagnostic armamentarium of clinical geneticists.

Diseases presenting "complex diseases" symptom

  • adrenal incidentaloma
  • aniridia
  • congenital adrenal hyperplasia
  • hydrocephalus with stenosis of the aqueduct of sylvius
  • inclusion body myositis
  • kabuki syndrome

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