Functional validation

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Functional validation of genomic discoveries

To validate findings from high-throughput studies, which are discovery driven approaches, an assay that demonstrates how genetic differences can produce measurable phenotypic effects.

Functional validations are required to prove that the finding wasn't a consequence of chance alone, especially given widespread genetic variation in various samples.

Molecular assays

  • Gene expression at the transcript level can be assayed using RNA-Seq or qRT-PCR.
  • Tissue or intracellular localisation of transcripts and proteins
  • Protein-DNA interaction using ChIP-Seq to identify sequences bound by specific proteins or histone modifications

Biological assays

  • Use of cell lines to knockdown or transfect cells with a specific transcript and measuring a specific cellular phenotype
  • Use of animal models to knock-out or knock-in transcripts

See http://massgenomics.org/2013/07/functional-validation-genomic-discoveries.html

On the definition of function

What fraction of the human genome is functional?

What fraction of the human genome is functional? - http://genome.cshlp.org/content/early/2011/08/26/gr.116814.110

The extent of functionality in the human genome - http://www.biomedcentral.com/content/pdf/1877-6566-7-2.pdf