In contrast to traditional genetic testing, which usually checks for
variants in specific genes, high - throughput sequencing has the potential to reveal a number of secondary findings, i.e., genetic variants with medical relevance but not related to the condition that merited the test.
Following up on findings from a an earlier genome - wide association study (GWAS) of type 2 diabetes (T2D) in Latinos, researchers from the Broad Institute of MIT and Harvard and Massachusetts General Hospital (MGH) traced an association detected in that study to
variants in a specific gene, SLC16A11, and uncovered two distinct mechanisms by which those variants disrupt the gene's function in liver cells, possibly contributing to the pathogenesis of T2D.
Not exact matches
The results, still
in a preliminary stage, show that patients with a
specific variant in the RET
gene - a proto - oncogene or cancer driver
gene;
variant G2071A - could be more sensitive to this drug.
The study, which is published
in the journal Molecular Psychiatry, describes a possible mechanism for how the
gene variant produces clinical symptoms by affecting levels of
specific proteins
in the brain.
Reviewing thousands of genome wide associate studies (GWAS) to identify genetic
variants in single nucleotide polymorphisms (SNPs), investigators at Dartmouth's Norris Cotton Cancer Center found that some alleles (one of a pair of
genes located on a
specific chromosome) are more frequently risk - associated with disease than protective.
The new test uses a highly sensitive
gene mutation detection method that is based on the partitioning of DNA into droplets to detect
specific circulating tumor DNA mutations and RNA
variants in whole blood.
«Once we had discovered 120 new
variants, we started testing them and, lo and behold, some were significantly better
in terms of
gene transfer efficiency to
specific tissues and organs,» Wilson says.
More than one quarter of children with two copies of a high - risk
variant in a
specific group of
genes develop an early sign of celiac disease called celiac disease autoimmunity (CDA) by age 5.
«What we found is that if people have a
specific polymorphism
in the BDNF
gene, they recovered to a greater extent than those with a different
variant of the
gene.»
A new
variant of the
gene - editing CRISPR / Cas9 system is safer and more
specific than versions previously used
in early research towards a treatment for Huntington's disease, shows research published today
in Frontiers
in Neuroscience.
Researchers suspect an autoimmune reaction is to blame because many people who develop narcolepsy — and just about everyone with the vaccine - associated form — have a
specific variant in a
gene in the HLA family, which helps the body distinguish its own proteins from those made by microbial invaders.
There's also a genetic component: The condition, which can occur at any age, often runs
in families and
specific gene variants have been linked to it.
Targeted
gene therapies, however, had to wait for (1) the identification of the
genes to target, (2) the cloning and / or sequencing of the relevant
genes and
in some cases, the
specific disease - causing
variant, (3) a full understanding of the normal
gene function and regulation, and (4) the development of efficient ways to deliver
genes to the relevant tissues at therapeutic levels.
Her dissertation looked at whether
variants in the PSA
gene — that is, the
gene that codes for the PSA (prostate
specific antigen) protein doctors use as a screen for the existence or recurrence of prostate cancer — had any influence on developing the cancer.
Reykjavik, ICELAND, 12 October 2011 — deCODE genetics today announced that it has entered into a research collaboration with Pfizer Inc., the objective of which is to discover sequence
variants associated with
specific clinical phenotypes related to Systemic Lupus Erythematosis by utilizing deCODE's expertise
in gene discovery.
Some sleep disorders may be tied to
specific genetic
variants in the
genes underlying the circadian rhythms, which may lead to new ways of treating those disorders.
The alliance will initially focus on the development, validation and commercialization of
specific diagnostic tests for
variants in genes involved
in three disease - related pathways:
Developed
in collaboration with the Laboratory Medicine, Information Technology and Health Science Research departments of Mayo Clinic Geneticist Assistant NGS Interpretative Workbench, is a web - based tool for the control, visualization, interpretation and historical knowledge base of next generation sequencing data targeted at
specific genes for the purpose of identifying potentially pathogenic
variants associated with
specific conditions such as hereditary colon cancer.
Specific variants of one or both of these
genes, which play a role
in the body's immune responses, have been found
in 74 percent of AMD patients who were studied.
Studying a
specific type of genetic variation
in the DNA sequences of wolves and domestic dogs - called Single Nucleotide Polymorphisms (SNPs)- the scientists identified the transfer of dog
gene variants into wolf genomes.
It's a complicated picture, to be sure, but it suggests some
specific areas
in which noncoding
variants are exerting a cis - regulatory effect on the LPA
gene.
Differences
in the DNA sequence at a
specific location
in a
gene are called
variants, or alleles.
Saturday, Oct. 21, 11:20 - 11:40 a.m., South Hall B, South Building Featured Plenary Abstract: Massively parallel reporter assays combined with cell - type
specific expression quantitative trait loci profiling identified a functional melanoma risk
variant in HIV - 1 inhibitor
gene, MX2 J. Choi, National Cancer Institute, et al
The polymorphism, located
in a
gene called PYHIN1, was not present
in European - Americans and may be the first asthma susceptibility
gene variant specific to populations of African descent.
By looking at your
specific allelic
variants of your HLA family of
genes, genetic testing can help you determine if genetics play a role
in your gluten sensitivity.
Dear Roger Williams wasn't aware of this fact when he wrote the Biochemical Individuality book I described above (although he hypothesized about a genetic influence on propensity to thrive on
specific diets), but
variants of these
genes are now known to hinder or help absorption or the efficient use of nutrients
in foods, which means that — depending on your genetic makeup, microbiota, health history and living environment — you should consume more or less folate, choline, vitamin C, fatty acids, starches, caffeine and beyond.
In July, lifestyle DNA tests inched closer to mainstream with the launch of Helix, a first - of - its - kind marketplace for personal genome products: For $ 80, Helix will use a saliva sample to sequence 22,000 of your
genes, unlike other at - home DNA tests, which look for
specific gene variants.)
And she also talked about a recent example
in which they helped determine that a
specific gene variant was likely not responsible for pancreatic cancer.
The widely used strategy of allele association investigates correlations of
gene variants with phenotypes, i.e., it probes if individuals with a trait of interest carry a
specific gene variant more frequently than individuals
in a control group (case - control studies).
CONCLUSIONS: Early - onset antisocial behavior
in a high - risk clinical group is predicted by a
specific COMT
gene variant previously linked with prefrontal cortical function and birth weight, and those possessing the val / val genotype are more susceptible to the adverse effects of prenatal risk as indexed by lower birth weight.