Thermo ebook on eQTL - 5

extent that a connection between a genotype and
a phenotype-analyzed and understood through
eQTL analysis-will impact our health remains to be
seen. Nonetheless, the thousands of variants linked
to phenotypes could unveil thousands of treatments.

With the GTEx database, scientists can query for
eQTLs in several ways. For example, scientists can
enter the name of a gene, which will return related
SNPs that could be eQTLs. That information alone,
however, leaves more work to be done. It is relatively straightforward to go from the information in the
GTEx database to search for the TaqMan SNP Genotyping Assay for any SNP related to the queried locus
and the TaqMan Gene Expression Assay for confirming expression levels for that gene.

References
1.

1000 Genomes Project Consortium, Auton, A.,
Brooks, L.D., et al. A global reference for human
genetic variation. Nat. 2015. 526(7571): 68-74. [PMID:

As discussed in "Precision from Single Nucleotide
Variants" (page 28), one change in a DNA's nucleotides-a so-called single nucleotide variant (SNV,
another name for SNP)-can trigger many diseases,
from cancer to sickle cell anemia and beyond. Consequently, SNVs can be used to advance precision
medicine in various ways. Work with eQTLs will help
scientists analyze the impact of such SNVs in clinical applications and find ways to make the most of
them across a range of diseases.

26432245]
2.

GTEx Portal, https://www.gtexportal.org

Mike May earned an M.S. in biological engineering
from the University of Connecticut and a Ph.D. in neurobiology and behavior from Cornell University. He
worked as an associate editor at American Scientist,
and he is the author of hundreds of articles for clients
that include Nature, Science, Scientific American, and
many others.

In 1958, Crick probably expected his central-dogma
concept to change biology. For all of us, though, the

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https://www.ncbi.nlm.nih.gov/pubmed/?term=26432245 https://www.gtexportal.org

Thermo ebook on eQTL

Table of Contents for the Digital Edition of Thermo ebook on eQTL

Contents
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