Sentences with phrase «nucleotide polymorphisms genome»

Not exact matches

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

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

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.

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.

All of these studies were genome - wide association studies (GWAS) based on millions of genetic variants called Single Nucleotide Polymorphisms (SNPs).

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.

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

Falling well short of full genome analyses, these services scan an individual's DNA for single nucleotide polymorphisms — point mutations — that are linked to traits and diseases.

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.

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.

HapMap is a directory of «single nucleotide polymorphisms,» or SNPs, places in the genome where differences between individuals (in the form of single chemical letters) appear in the DNA code.

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).

Called the stairway plot, it models the frequency of single nucleotide polymorphisms (SNPs) in whole genome sequences of hundreds of individuals.

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.

Hill showed a single - nucleotide polymorphism — placed in the genome where a single nucleotide is altered — in this gene is «strongly associated» with elite sprint racing performance.

The genomes of 767 people, belonging to 76 families characterised by the ability to discriminate pitch, duration and sound patterns, were analysed for single nucleotide polymorphisms (SNP).

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.

Previous genetic studies have examined the association of aspirin, NSAIDs, or both with colorectal cancer according to a limited number of candidate genes or pathways.6 - 10 Thus, to comprehensively identify common genetic markers that characterize individuals who may obtain differential benefit from aspirin and NSAIDs, we conducted a discovery - based, genome - wide analysis of gene × environment interactions between regular use of aspirin, NSAIDs, or both and single - nucleotide polymorphisms (SNPs) in relation to risk of colorectal cancer.

Linkage disequilibrium and inference of ancestral recombination in 538 single - nucleotide polymorphism clusters across the human genome.

While the HapMap was ramping up, I got my name on a paper for the first time, High - density single - nucleotide polymorphism maps of the human genome (Genomics, 86:2, 2005).

Linkage disequilibrium and inference of ancestral recombination in 538 single - nucleotide polymorphism clusters across the human genome Clark, A. G., R. Nielsen, J. Signorovitch, T. C. Matise et al. 2003.

The effect of a nucleotide polymorphism may vary depending on the particular mitochondrial genome in which it arises.

Genome - wide patterns of nucleotide polymorphism in domesticated rice Caicedo, A. L., S. H. Williamson, R. D. Hernandez, A. Boyko et al. 2007.

Genome - wide patterns of nucleotide polymorphism in domesticated rice.

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.

The largest numbers of variants identified by genome - wide association are copy - number changes, which have a greater phenotypic effect than do single nucleotide polymorphisms.

This lab examines Single Nucleotide Polymorphisms (SNPs) in the human mitochondrial genome.

Here we report a high - quality draft genome sequence of the domestic dog (Canis familiaris), together with a dense map of single nucleotide polymorphisms (SNPs) across breeds.

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.

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.

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.

Microsatellite genotypes were obtained for 203 clinical infection samples from eight locations, and Illumina paired - end sequences were obtained to yield high coverage genome - wide single nucleotide polymorphism (SNP) data for 65 clinical infection samples from four locations.

To this end, we determined the susceptibility of 38 NAPCR1 isolates to ten antibiotics from seven classes using E-tests or macrodilution tests and examined 31 NAPCR1 whole - genome sequences to identify single nucleotide polymorphisms and genes that could explain the observed resistance phenotypes.

Genome sequence analysis was performed on multiple culture time point samples from six monoclonal isolates, and single nucleotide polymorphism (SNP) variants emerging over time were detected.

We are able to call 22 million high quality single nucleotide polymorphisms (SNP) from the nuclear genome, representing the largest SNP call set from an East Asian population to date.

Genome - based comparison of E. coli from infected patients and their immediate environment indicated low genetic similarity overall between the two, although three clinical - environmental isolate pairs differed by ≤ 5 single nucleotide polymorphisms.

To gain a deeper understanding of how mosquito populations are evolving, here we sequenced the genomes of 765 specimens of Anopheles gambiae and Anopheles coluzzii sampled from 15 locations across Africa, and identified over 50 million single nucleotide polymorphisms within the accessible genome.

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.

We have established two inbred lines that both show a significant overall reduction in genetic diversity based on microsatellite genotyping and genome - wide single nucleotide polymorphism (SNP).

NCBI provides Gene, Online Mendelian Inheritance in Man, the Molecular Modeling Database (3D protein structures), dbSNP (a database of single - nucleotide polymorphisms), the Reference Sequence Collection, a map of the human genome, and a taxonomy browser, and coordinates with the National Cancer Institute to provide the Cancer Genome Anatomy Prgenome, and a taxonomy browser, and coordinates with the National Cancer Institute to provide the Cancer Genome Anatomy PrGenome Anatomy Project.

[4][5] In 2010, a study looked at 48,000 Single nucleotide polymorphisms that gave a genome - wide coverage of 912 dogs representing 85 breeds.

In 2012, a study looked at 49,000 Single nucleotide polymorphisms that gave a genome - wide coverage of 1,375 dogs representing 35 breeds, 19 wolves, and previous published genetic signatures of other breeds, giving a total of 121 breeds covered.

They first looked for individual letters in DNA, called bases, that varied from one genome to the next, identifying about 4 million of these so - called single - nucleotide polymorphisms (SNPs).

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].

Molecular genome - wide association analyses have identified single nucleotide polymorphisms that segregate with the boldness - shyness axis in dogs [10, 11].

In GWA studies many hundred thousand single nucleotide polymorphisms (SNPs) across the genome of many (often more than 1000) individuals are genotyped.