Sentences with phrase «specific gene variant»

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).

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.

Their goal is a database that will help them examine how specific gene variants affect health.

With their analyses of the genome data, the scientists were also able to identify eight specific gene variants that are strongly linked to altered risk for both diseases.

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.

But specific gene variants are also linked to greater risks of developing many of these diseases.

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.)

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.»

«Financial stress is associated with migraine, if you have specific circadian gene variants.»

Hendrik is preparing the publication of the most complete woolly mammoth genome yet, and Harvard geneticist George Church's team is already working to introduce specific DNA variants — genes for hair, tusks, subcutaneous fat and cold resistance — into cultured cells from Asian elephants (right).

«We hope that our findings will foster development of a personalized strategy for the prevention and treatment of multiple sclerosis, one that takes into account the gender - specific contribution of galanin gene variants to susceptibility and disease progression,» said Dr. Victoria Lioudyno, lead author of the study.

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.

«GECCO aims to continue to discover additional colorectal cancer - related variants by investigating how genetic variants are modified by other environmental and lifestyle risk factors, including biomarkers as well as how they influence patient treatment response and survival,» Peters said, emphasizing how much further research is required to uncover the specific mechanisms by which genes modulate the intake of certain foods on colorectal cancer risk.

By focusing on several of these mutations and screening through guide RNA variants with different mismatch combinations, they were able to identify specific guide RNAs that stimulated Cas9 activity towards the mutated gene sequences but left the normal counterpart untouched.

Ishii and his team chose to focus on two histone variants named TH2A and TH2B, known to be specific to the testes where they bind tightly to DNA and affect gene expression.

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.

Researchers at the U.S. Military HIV Research Program (MHRP) tested whether specific variants of immune response genes called HLA were associated with greater protection against the virus.

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.

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.

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:

Finally, the authors mention that genes specific to hypnozoite forming parasites mainly belong to variant multigene families and unlikely to be relevant for hypnozoite formation.

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.

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.

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.

However, the prevalence of variants of these genes differs across breeds, and the functional role of specific variants is unclear.

All of them will tell you what variants of a specific gene a dog has.

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.