Thermo ebook on eQTL - 14

Genomics Is Driving New
Opportunities in Genetic
Disease Research
Genome-wide analysis can be a highly productive approach to the
study of single-gene defect diseases.
Matthew Wygant, M.S.
Even among scientists, there is some blurring and
some overlap in the usage of the words "genetics"
and "genomics." In this article that looks at a slice
of the interaction between these two disciplines, a
distinction must be made. "Genetics" concerns the
study of a single gene of known function and its
effects. A genetic disease is usually one that has a
single defective gene as its assigned cause and follows a classical Mendelian pattern of inheritance.
Examples include cystic fibrosis, Huntington's disease, and Tay-Sachs disease. By comparison, "genomics" refers to the study of the entire genome.
The wide lens of genomics is used to capture the
big picture around complex diseases such as cancer, diabetes, and asthma.

some of those variations, as it turns out, have genetic determinants.

New cystic fibrosis pathways found
Cystic fibrosis (CF) is a single-gene disorder that
causes multiple-organ dysfunction, frequent lung
infections, and reduced life expectancy. The severity of symptoms varies widely between individuals,
even those with mutations on both copies of the
CFTR (cystic fibrosis transmembrane conductance
regulator) gene.
Heritability studies have shown that this diversity
can be associated with genetic variation occurring
elsewhere in the genome. A research group composed of collaborators from Canada, France, and
the United States recently published the results
of a study in which they sought to identify those
genetic modifiers. Combining transcriptomics and
genomics, the group analyzed nasal epithelial tissue using RNA-Seq to assess expression in patients

However, researchers are also using genomics to
study genetic diseases, including those that may be
characterized by a single mutation. These researchers have shown that genome-wide analysis can be
a highly productive approach to study single-gene
defect diseases. There are wide variations in the
phenotypes of those diseases, including age of onset, disease severity, and response to treatment, and

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https://www.ncbi.nlm.nih.gov/pubmed/28853905 https://www.ncbi.nlm.nih.gov/pubmed/28853905

Thermo ebook on eQTL

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