Sentences with phrase «single nucleotide variations»

This study of human genetic variation and its relationship to health and disease involves a large number of study participants and will capture not only common single nucleotide variations but also rare copy number and structural variants that are increasingly thought to play an important role in complex disease.

«White males with a single nucleotide variation in KITLG, called the G allele, have the highest odds of having testicular cancer.

SMN1 and SMN2 are nearly identical, he said, and the only consistent difference between them is a single nucleotide variation at the start of exon 7.

Not exact matches

In genome - wide association studies (GWAS), researchers focus on typical variations in genomes, so - called SNPs (single nucleotide polymorphisms).

Specifically, they focused on single - nucleotide polymorphisms (SNPs)-- variations that affect a single DNA building block.

Single - nucleotide polymorphisms (SNPs — pronounced «snips») are the most common type of human genetic variation; each one represents a small difference in a nucleotide — the building blocks of our DNA.

After gene - typing about 3,000 people, Sturm found that how OCA2 is expressed — and how much pigment a person has — is strongly linked to three single nucleotide polymorphisms (SNPs), or single letter variations, in a DNA sequence near the OCA2 gene.

The research looked at more than five million genetic variations, called single nucleotide polymorphisms or SNPs (pronounced «snips»), in each participant in the study and compared the frequency of these SNPs with that of the control subjects.

Furthermore, the analysis of data on single - nucleotide polymorphisms, the main cause of difference between human beings, allows the prediction of phenotypic effects of a particular genetic variation.

With the completion of the first phase of the Human Genome Project in 2000, and the advent of sequencing technologies that can detect gene variations such as single nucleotide polymorphisms (SNPs), for the first time scientists have the tools in hand to find the key immune genes and genetic networks that play roles in vaccine response.

Samani and his colleagues analyzed more than 500,000 genetic variations (naturally occurring, single - nucleotide differences) spanning the genome in blood cells collected from almost 3,000 people.

Genome - wide association studies generally rely on genetic variations called single - nucleotide polymorphisms, or SNPs (pronounced «snips»).

Common inherited genetic variation (single nucleotide polymorphisms, or SNPs) accounted for up to about 28 percent of the risk for some disorders, such as ADHD (dark green).

Single nucleotide polymorphisms of the kind the Penn - led team investigated, frequently called SNPs (pronounced «snips»), are the most widespread kind of genetic variation among people.

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.

To get a clearer picture of the settlement patterns, David Reich of Harvard Medical School in Boston and his colleagues compared DNA from 52 Native American populations across Canada, Greenland and Central and Southern America, focusing on variations called single - nucleotide polymorphisms (SNPs) in protein - coding and non-coding regions across the genome.

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).

To reduce false positives when identifying genetic variations associated with human disease through genome - wide association studies (GWAS), Dartmouth researchers have identified nine traits that are not dependent on P values to predict single nucleotide polymorphisms (SNP) reproducibility as reported in Human Genetics on October 2, 2014.

This study further investigated the impact of nicotine use / smoking status and variation in the mu opioid receptor gene (OPRM1), specifically, an A118G single nucleotide polymorphism (SNP, or DNA sequence variation), on the effects of naltrexone on a range of drinking outcomes.

These variants, called single - nucleotide polymorphisms (SNPs, pronounced «snips»), are the route through which variations in traits such as hair and eye color, as well as many diseases, are often passed to future generations.

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.

Looking for single nucleotide polymorphisms (SNPs) or subtle variations in the DNA sequence, they found differences in AHR2, which plays an important role in mediating toxicity in early life stages.

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.

For example, centenarians not only have retarded biological ages, they're also more likely to carry specific gene variations (called single nucleotide polymorphisms, or SNPs) that protect against disease.

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»).

Although domesticated isolates exhibit high variation in ploidy, aneuploidy and genome content, genome evolution in wild isolates is mainly driven by the accumulation of single nucleotide polymorphisms.

They may provide as much as three times the amount of base variation as the better - known single nucleotide polylmorphisms (SNPs), where single base pairs vary between individuals without affecting function.

MNLPs join the list of sequence variations that have been discovered in recent years, including SNPs (single nucleotide polymorphisms), INDELs (insertions or deletions of various lengths), and STRs (short tandem repeats).

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

For the 374 expressed genes, we find many regions with statistically significant association of single nucleotide polymorphisms (SNPs) with expression variation in lymphoblastoid cell lines after correcting for multiple tests.

Here we report a public database of common variation in the human genome: more than one million single nucleotide polymorphisms (SNPs) for which accurate and complete genotypes have been obtained in 269 DNA samples from four populations, including ten 500 - kilobase regions in which essentially all information about common DNA variation has been extracted.

The researchers also analyzed gene variations called single nucleotide polymorphisms, or SNPs, to see if any predicted healing.

A single DNA sequence is formed from a chain of four nucleotide bases and if some individuals in a population do not carry the same nucleotide at a specific position in the sequence, the variation is classified as an SNP.

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.

We observed a preference for C > T / G > A alterations analogous to the somatic single - nucleotide variation spectrum in other cancers (Figure 1C).

Microarray studies and, more recently, exome sequencing have demonstrated the importance of de novo copy number variations (CNVs) and single - nucleotide variations (SNVs) in ID, but the majority of cases remains undiagnosed.

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).

This section invites manuscripts describing (a) Linkage, association, substitution or positional mapping and epigenetic studies in any species; (b) Validation studies of candidate genes using genetically - engineered mutant model organisms; (c) Studies focused on epistatis and gene - environment interactions; (d) Analysis of the functional implications of genomic sequence variation and aim to attach physiological or pharmacogenomic relevance to alterations in genes or proteins; (e) Studies of DNA copy number variants, non-coding RNA, genome deletions, insertions, duplications and other single nucleotide polymorphisms and their relevance to physiology or pharmacology in humans or model organisms, in vitro or in vivo; and (f) Theoretical approaches to analysis of sequence variation.

With more than 15 million entries in dbSNP, single nucleotide polymorphisms (SNPs) remain the most common form of DNA sequence variation in humans.

Methods: We did a genome - wide association study of 297 P falciparum isolates from Cambodia to investigate the relationship of 11 630 exonic single - nucleotide polymorphisms (SNPs) and 43 copy number variations (CNVs) with in - vitro piperaquine 50 % inhibitory concentrations (IC ₅₀ s), and tested whether these genetic variants are markers of treatment failure with dihydroartemisinin - piperaquine.

The paucity of single nucleotide diversity among breeds is consistent with other studies (29 — 32) and stands in stark contrast to the abundance of coding repeat variation we found in these same genes known to be involved in the developmental processes under selection in the radiation in dog breed morphologies.

The information imparted here — including lists of toxic medications electromagnetic fields (EMFs), cancer screening, and SNPs (single nucleotide polymorphism — a type of genetic variation passed from parent to child which has become a critical component of personalized medicine) is a vital clarion call to us all.

Scientists used gene chips containing feline single nucleotide polymorphisms (SNPs)-- variations from the common feline DNA sequence that can help track down genes responsible for genetic diseases — to conduct their investigations.

Whole genome association analysis studies that utilize single nucleotide polymorphism (SNP) markers have been used to identify the molecular causes of various traits and conditions including genetic mutations within breeds that cause coat color variations [15], hairlessness [25] and defects in spinal development [26].