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Showing posts with label Next-Gen Sequencing. Show all posts
Showing posts with label Next-Gen Sequencing. Show all posts

Saturday, August 27, 2016

The Genetic Components of Rare Diseases

Techniques for determining which genes or genetic variants are truly detrimental

Last fall, the conclusion of the 1000 Genomes Project revealed 88 million variants in the human genome. What most of them mean for human health is unclear. Of the known associations between a genetic variant and disease, many are still tenuous at best. How can scientists determine which genes or genetic variants are truly detrimental?

Patients with rare diseases are often caught in the crosshairs of this uncertainty. By the time they have their genome, or portions of it, sequenced, they’ve endured countless physician visits and tests. Sequencing provides some hope for an answer, but the process of uncovering causal variants on which to build a treatment plan is still one of painstaking detective work with many false leads. Even variants that are known to be harmful show no effects in some individuals who harbor them, says Adrian Liston, a translational immunologist at the University of Leuven in Belgium who works on disease gene discovery.


CROSS COMPARE: Each model organism has its own vocabulary that researchers use to describe
an array of characteristics. The Monarch Initiative has mapped phenotype descriptions used in model
systems to human clinical features. The Initiative’s Exomiser software employs this mapping strategy
to help users better understand human genetic disorders by widening the pool of gene-function
associations. ROBINSON ET AL., GENOME RES, 24:340–48, 2014.
Source: the-scientist
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