Sentences with phrase «variant allele»

+ / + - Homozygotes for this variant allele in the CTH gene had significantly higher plasma homocysteine levels than other genotypes in a cohort of 496 Caucasian individuals.

Here we describe a multiplex PCR (MxPCR) approach for capturing 13 leukemia - associated mutation hotspots followed by MiSeq sequencing that enables robust detection of mutations with a variant allele fraction (VAF) as low as 0.8 % (0.008) in blood DNA.

Tumor content was estimated at greater than 60 % by histopathologic review of tumor sections (Fig. 1B) and variant allele frequency analysis.

As a central repository for variant allele frequency (VAF) data, dbSNP can be a powerful resource for human genetics studies.

The variant allele disrupts predicted binding sites for two transcription factors (MEF2C and CDX2) and creates possible binding sites for at least two others.

Subsequent experimental work demonstrated that mir204 plays a role in ocular development and that the variant allele severely altered its targeting abilities.

For these 3 SNPs, we report the ORs for use of aspirin, NSAIDs, or both across genotypes corresponding to 0, 1, or 2 copies of the variant allele (eTable 5 in the Supplement) and the ORs for each SNP by strata of use of aspirin, NSAIDs, or both with 1 common reference group (eTable 6 in the Supplement), to fully describe the interaction.

Stice's group also genotyped these young women to determine whether or not they possessed variant alleles of two genes (DRD2 Taq1A A1 and DRD4 - 7 +) that have been linked with lower dopamine activity and, in some studies, obesity.

Published in the European Journal of Cancer Galore - Haskel G, Azizi E, Mohamdi H, Scope A, Chaudru V, Laitman Y, Barak F, Pavlotsky F, Demenais F, Friedman E. MC1R variant alleles and malignant melanoma risk in Israel.

If certain genetic variations are found to be more frequent in people with the disease compared to people without disease, the variant alleles are said to be «associated» with the disease.

Not exact matches

What the figure shows is that in small populations, genetic diversity is rapidly lost, that is, gene variants (i.e. alleles) become «fixed.»

Some genes have a variety of different forms, which are located at the same position on a chromosome; an allele is such a variant form of a gene.

For their experiments, the researchers created hybrids of two genetically distinct mouse strains with a fully sequenced genome, allowing gene variants to be clearly assigned to the maternal or paternal allele.

Every gene in (almost) every cell of the body is present in two variants — so called alleles: one is deriving from the mother, the other one from the father.

These are subjected to so - called next generation sequencing, a technique that sifts the vast genetic composite, ferreting out sequence variants (or alleles) caused by mutations in genes.

In humans, there are three common variants, or alleles, of the APOE gene, numbered 2, 3 and 4.

In those who inherit two APOE3 alleles, age of onset differs depending on which combination of the two 523 variants they also inherit.

«Interbreeding with Neandertals provided an opportunity to get back some of those variants, albeit with many potentially weakly deleterious Neandertal alleles as well.»

Several variants, such as the HLA B * 5701 allele, have been associated with the pace of HIV disease progression in both controllers and «normals.»

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.

Of the Iron Age individuals, three carry at least one Duffy null allele, protecting against malaria, and two have at least one sleeping - sickness - resistance variant in the APOL1 gene.

Those carrying two copies of the other variant — the G allele — remembered the least, with the performance of those carrying one copy of each variant lying somewhere in the middle.

By contrast, women who carry a sickle - cell allele, which protects against malaria, have only about 50 percent more surviving children in malaria - infested regions than women lacking the variant.

Participants carrying two copies of one variant within the PRKCA gene, dubbed the A allele, remembered the most details about the pictures.

A particularly strongly - protective variant, known in genetics as an «allele», was found most commonly among children in Kenya in East Africa.

We also identify variants at OCA2 that are correlated with alternative splicing; alleles associated with light pigmentation are correlated with a shorter transcript, which lacks a transmembrane domain.

She means that no unique genetic variants, or alleles, have been found in Native American groups.

Once transferred into the human genome, however, these alleles became subject to natural selection, which was more effective in the larger human populations and has removed these gene variants over time.

He was also missing the Alzheimer's susceptibility allele apo, a well - established variant of a gene for apolipoprotein E carried by approximately two out of three patients.

Even more interesting, the allele is a variant of a gene that might actually be part of the disease process.

According to the «common disease / common variant» theory, it's not necessary that the diseases themselves be old, just that the alleles, the predisposing variants, are old.

For the particular variant of interest, one version, the T allele is more common, and of 196 patients, 135 had two copies of the T allele.

Given that two separate teams found evidence for the same variant in a large number of sick people, «one can be absolutely confident that this risk allele is real,» says McPherson.

A naturally occurring variant in a different gene, the so - called APOE2 allele, has been previously shown to protect against Alzheimer's disease, but Stefansson says the new variant, while rarer, confers much greater protection.

Eventually Hamer found a variant, or allele, of a gene called VMAT, that corresponded to higher scores for what he had defined as spirituality.

Hamer calls the VMAT variant «the spiritual allele,» or more dramatically, «the God gene» (also the title of his book)-- even though according to his own statistics, it accounts for only 1 percent of the variance in the test scores of his subjects.

In fairness, I had a fairly unexciting 23andMe profile, absent of hidden Mendelian disease alleles or high - penetrance variants for late onset disease.

To identify common functional variants, the authors used an allelic transmission disequilibrium test (TDT), which determines if an allele is transmitted more (or less) than we'd expect by chance.

If the ARMD and PGx variants were also considered, each individual carried 15.3 risk alleles on average.

Obviously there's considerable power to detect variants contributing to disease in a family with segregating alleles (rather than unrelated individuals).

Red SNPs indicate discordant homozygous calls between MAGIC and BRLMM, which are indicative of the presence of «null alleles» (individuals lacking specific binding to either probe, usually because of a variant at the probe binding site).

Mostly, I was interested in two things: BRCA1 / 2 mutations and APOE4 alleles, well - established risk variants for cancer and Alzheimer's disease, respectively.

While 90 % of human SNPs have a minor allele frequency (MAF) below 5 % and therefore are hard to be identified as having an effect, the DO population is balanced by its design and rare variants are uncommon (only 2 % SNPs with MAF < 5 %).

The genetic variant identified to be associated with the brain aging rate at the TMEM106B locus is also extremely frequent: 80 percent of the population carries at least one copy of the allele associated with increased aging rate in their genome, Rhinn said.

Using large - scale empirical and simulated data sets, we found that the sample sizes used in the HapMap project are sufficient to capture common variation, but that performance declines substantially for variants with minor allele frequencies of < 5 %.

Two elderly family members are unaffected despite having a compound heterozygote genotype with the pathogenic R304 * mutation and the A299V variant on two different alleles (6).

They did their best to filter out genes known to have random monoallelic expression, single - allele expression due to sequence variants, or RNA patterns that might look like monoallelic expression due to technical issues with the sequencing.

They applied a strategy for seraching genes with multiple rare (minor allele frequency < 0.001) variants in cases but not in controls with a potentially damaging effect.

Some of the associated variants were super rare (MAF < 1 %), suggesting that genotyping studies like this are well - powered to detect associations even at allele frequencies below one percent.

In fact, the most informative markers are likely to have high minor allele frequencies, which likely makes them neutral with respect to selection, and therefore not functional variants.