Sentences with phrase «known polymorphism»

Similarly, in cancer genomics, a candidate somatic mutation observed at the position of a known polymorphism typically indicated a germline variant that was under - called in the normal sample.

The third modular network incorporates known polymorphisms or haplotypes that influence each of the generic responses to organism stress (intermediate phenotype, I, or response genome or proteome), and will define, for example, the extent to which an individual can mount an inflammatory response, develop thrombosis, or accommodate oxidant stress.

SNPs were selected for each region based on known polymorphisms between the Boxer reference sequence and other breeds.

Not exact matches

Their preliminary analysis revealed several mutations known as single nucleotide polymorphisms (SNPs) in the ALR gene, many of which haven't been identified before.

Instead they search specific regions of the genome for a type of mutation known as a single nucleotide polymorphism, or SNP (pronounced «snip»).

She says she knows of another person who submitted a request for polymorphism data before the January regulation change, she says, and who was denied by the company.

Fully sequenced genomes remain rare, so the bulk of the analysis was done by looking at genetic markers known as single nucleotide polymorphisms or SNPs.

The lab has also shifted from testing genetic markers known as short tandem repeats (STRs), which are standard in paternity testing, to recording single letter variants in the genetic code known as single nucleotide polymorphisms, or SNPs, which are rarely used for this purpose.

The $ 138 million HapMap denotes haplotypes, stretches of DNA that are inherited together as unbroken blocks and can be identified by just a handful of DNA markers known as SNPS (single nucleotide polymorphisms).

Rather than measuring genetic changes directly (such as single nucleotide polymorphisms, otherwise known as SNPs), McKee and her group typically do RNA expression profiles on patients to see what genes are being expressed.

By mid-2007, more than 3 million such locations, known as single - nucleotide polymorphisms (SNPs), had been charted.

Secondly, a single protein can crystallize in multiple different crystal forms, this is known as polymorphism.

The third is a method implemented by Reich for reading the genetic codes of 1.2 million carefully chosen variable parts of DNA (known as single nucleotide polymorphisms) rather than having to sequence entire genomes.

The twins in the current study had already had their genomes analyzed, and 1.3 million small genetic variations (also known as single - nucleotide polymorphisms or SNPs) were known for each participant.

When a specific SAP is found in the peptide sequence, the investigator knows that individual had the DNA to produce that polymorphism.

To identify new genetic variations associated with different SLE phenotypes, a total of 598,258 different regions on the genome (known as single - nucleotide polymorphisms) were genotyped in a population of 482 Caucasian European SLE patients of Spanish origin recruited from the rheumatology departments of 15 Spanish university hospitals belonging to the IMID Consortium (SLE group).

Although the biological mechanisms through which this polymorphism could affect aging are not known, it is adjacent to two genes called CDKN2A and CDKN2B, which play an important role in cell cycle regulation.

The researchers compared the dogs» DNA, looking for sequences that differed by a single base, known as single - nucleotide polymorphisms.

To find out, Craig and his colleagues developed a mathematical strategy to search the pool for DNA variants called single - nucleotide polymorphisms from a known individual.

Then they checked blood samples against half a million known variations in DNA sequences, or single - nucleotide polymorphisms, which recently were identified by the International HapMap Project that looked for differences in the genomes of people from many populations.

It has been known for some time that coeliac disease develops in people who have a genetic susceptibility, but despite the fact that 40 % of the population carry the most decisive risk factor (the HLA - DQ2 and DQ8 polymorphisms), only 1 % go on to develop the disease.

Alu - insertion polymorphisms are a boon for the study of human population genetics and primate comparative genomics because they are neutral genetic markers of identical descent with known ancestral states.

The researchers examined millions of these genetic code variations, known as single nucleotide polymorphisms (SNPs) and found thousands that control DNA methylation in some or all tissue types.

The mitochondrial genome of healthy humans also exhibits some natural variation — a single component of the mitochondrial DNA sometimes differs between one human and another — this is known as a SNP (single nucleotide polymorphism, «snip»).

In each case they checked tiny sites of known DNA - sequence variations — «single nucleotide polymorphisms» — that mark common gene variants.

In addition to these changes, multiple minor, naturally occurring genetic variants, also known as polymorphisms, have been described in the p53 gene.

Assist disease control by providing up - to - date geographical information about known and newly - emerging forms of drug resistance, by examining genetic variation in the context of how whole pathogen genomes are evolving rather than as fragmentary information about individual genetic changes or polymorphisms.

In a new study, Sklar and her colleagues are scanning 500,000 gene variants, known as single nucleotide polymorphisms, obtained from a sampling of patients with bipolar disorder.

To study these variations, researchers scan strategically selected sites of the genome that are known to vary considerably across the population, taking note of single nucleotide polymorphisms (SNPs)-- single - letter variations in the genetic code.

Each person's complete set of DNA, or genome, is surveyed by examining a strategically selected «panel» of genetic markers that tag areas of known variation, called single nucleotide polymorphisms (SNPs).

Polymorphisms in five of 15 genes (33 %) encoding molecules known to primarily influence pancreatic beta - cell function - ABCC8 (sulphonylurea receptor), KCNJ11 (KIR6.2), SLC2A2 (GLUT2), HNF4A (HNF4alpha), and INS (insulin)- significantly altered disease risk, and in three genes, the risk allele, haplotype, or both had a biologically consistent effect on a relevant physiological trait in the QT study.

Although the newest edition of the authoritative textbook, Vitamin D, claims that in humans calcidiol binds with equal affinity to the DBP whether it is derived from vitamin D2 or vitamin D3, 37 the citation for this statement is the author's own PhD thesis, in which he reported results obtained from testing the DBP of a mere two people.48 Since the gene for the DBP is one of the most polymorphic known (meaning it exists in many forms), existing in three common alleles and 124 known rarer alleles (alleles are specific forms of the same gene), each allele itself having many polymorphisms, 37 a sample size of two is rather unconvincing.

Women with conditions suggestive of environmental toxicity (multiple chemical sensitivity, chronic fatigue, fibromyalgia, autoimmunity), known toxic exposures, or genetic polymorphisms like MTHFR, may want to work with a functional medicine physician.

Dr. Tim Jackson: And, if you have the GAD polymorphism — you know — Glutamate and GABA are on a seesaw.

And you know, what people understand is that you - you may not have any copies of MTHFR, that you can have what I call a functional polymorphism where those pathways are not working because of too much oxidative stress, or environmental chemicals, or nutrient deficiencies.

Uhm — And then, the production of — you know — Glutathione is so important uhm — you know — that plays a role or — and it's affected by other polymorphisms, which that — You know — MTHFR is a polymorphism.

And, if you have the GAD polymorphism — you know — Glutamate and GABA are on a seesaw.

Uhm — It also can cause you to uh — pee out your electrolytes, especially Potassium, faster than — you know — someone without this Polymorphism.

Uhm — And in terms of — you know — you see the VDR in here, which is Vitamin D Receptor Polymorphisms.

These are known as polymorphisms.

We studied the well known functional polymorphism in the 5 ′ flanking regulatory (promoter) region of the gene (SLC6A4) coding for the serotonin transporter protein.

Specifically, we hypothesized that increased frequency of S allele carriers of the 5 - HTTLPR functional polymorphism within East Asia is due to culture — gene coevolution, whereby collectivistic cultural values serve an adaptive function, reducing the probability of environmental stress, a known catalyst of negative affect, thus leading to genetic selection of the S allele within collectivistic cultures.

We describe a common, functional C > T single nucleotide polymorphism, rs25532, located less than 150 nucleotides centromeric of the serotonin transporter - linked polymorphic region indel known as 5 - HTTLPR.