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Precision from Single
Nucleotide Variants
Advances in sequencing and data analysis have improved our
understanding of SNVs and thus precision medicine.
Mike May, Ph.D.
ease," says Davuluri. Plus, SNVs "can be used to identify
patients who respond to specific or targeted therapy."

Switching just one base in a gene causes big changes, sometimes. The results of such a single nucleotide variant (SNV) depend on the gene, the location
in the gene, and the base swap. One SNV can be
related to cancer, another to sickle cell anemia, and
so on. Although SNVs arise frequently, important instances can be at very low levels-sometimes at the
limits of technology's ability to find them. Advances
in various forms of sequencing and advanced data
analysis give scientists improved pathways to understanding the biology of SNVs and use the results in
precision medicine.

Some applications of SNVs help clinicians predict the
expected pathways of a person's disease, especially
in cancer. "Knowledge of somatic single nucleotide
variants in tumor tissues provides prognostic information-knowledge of how rapidly disease is likely
to progress," says Jeffrey Townsend, Elihu Professor
of Biostatistics and Ecology & Evolutionary Biology
at the Yale School of Public Health. "Moreover, it provides the ability to target precision therapies to an
individual's tumor." As an example, he points out vemurafinib, which is prescribed to melanoma patients
who have a specific valine-to-glutamate substitution
at amino acid site 600 in the gene BRAF, Townsend explains. "Such targeted therapies alone usually provide
a brief respite from disease, but most do not currently
cure many cancers or drive them into longstanding
remission," he says. "However, there is reason to be
optimistic that building up a constellation of combination precision treatments may enable oncologists
to outflank evolving tumors and cure cancer patients."

"SNVs could be either germline or somatic," says Ramana V. Davuluri, professor of preventive medicine at
Northwestern University's Feinberg School of Medicine. "While germline SNVs are due to natural variation-person to person variation in genotype at each
locus-in the populations, somatic SNVs are the result
of mutations in the patient's tumor or disease cell."
In precision medicine, SNVs can be used in various
ways. For one thing, "SNVs are useful markers for determining loss of protein function and risk of a dis-

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https://publichealth.yale.edu/profile/jeffrey_townsend/ https://www.feinberg.northwestern.edu/faculty-profiles/az/profile.html?xid=29607 https://www.feinberg.northwestern.edu/faculty-profiles/az/profile.html?xid=29607

Thermo ebook on eQTL

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

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