Sentences with phrase «nucleotide variant in»

In the current study, which was conducted in mice, scientists have analyzed one particular single nucleotide variant in a region associated with increased risk for developing colorectal and prostate cancers, but whose mechanism of action has been unclear.

Recent reports have found that conventional cell isolation and genome amplification strategies, even using MDA, can yield as many as a million false positive single - nucleotide variants in a human genome, swamping the true positives (1).

[PMID 26175754] DNA methylation and single nucleotide variants in the brain - derived neurotrophic factor (BDNF) and oxytocin receptor (OXTR) genes are associated with anxiety / depression in older women

Not exact matches

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 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.

Where the Neanderthal had gene variants for a larger skull, for instance, Church would use MAGE to modify the nucleotide sequences that constituted those genes in one or more of the chunks of human DNA.

Monovar improves further on the new SCS's computational tools which scientists found «lacking» by more accurately detecting slight alterations in DNA makeup known as single nucleotide variants (SNVs).

Each of the genetic variants studied by the researchers is a single - nucleotide polymorphism, or SNP — a site at which the DNA code is altered by a single «letter» or nucleotide in some individuals, and where one «letter» is more commonly found in individuals with higher fracture risk.

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.

It will build on the recently completed HapMap, which describes how blocks of DNA tagged by common variants, called single - nucleotide polymorphisms (SNPs), vary in different populations (ScienceNOW, 26 October 2005).

Gregory Koblentz, deputy director of the biodefense program at George Mason University in Fairfax, Virginia, speculates that the FBI may have used a recent technique based on the identification of Single - Nucleotide Repeat markers in the anthrax genome that allows for differentiating between variants of the same strain.

Sequencing accelerates the analysis of cancer associated alterations in genome sequence such as insertions and deletions, CNVs, inversions, duplications, translocations and gene fusions, as well as single nucleotide variants.

In a study, published in Science, they investigated a gene region that contains a particular single nucleotide variant associated with increased risk for developing colorectal and prostate cancers — and found that removing this region caused dramatic resistance to tumor formatioIn a study, published in Science, they investigated a gene region that contains a particular single nucleotide variant associated with increased risk for developing colorectal and prostate cancers — and found that removing this region caused dramatic resistance to tumor formatioin Science, they investigated a gene region that contains a particular single nucleotide variant associated with increased risk for developing colorectal and prostate cancers — and found that removing this region caused dramatic resistance to tumor formation.

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

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.

Distinguishing single - nucleotide variants (SNVs) from errors in whole - genome sequences remains challenging.

Whole - genome sequencing (WGS) marks the final step in increasing genetic marker density by assaying all single - nucleotide variants (SNVs), and thus has the potential to further improve relationship detection by enabling more accurate detection of IBD segments and more precise resolution of IBD segment boundaries.

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.

They identified 3 homozygous variants in ATP6V1B: a frameshift mutation (p.Ile386Hisfs * 56), a nucleotide substitution in exon 10 (p.Pro346Arg), and a new splicing mutation in intron 5 and, 2 variants in ATP6V0A4: a homozygous variant (p.Arg743Trp) and a known missense mutations (p.Asp411Tyr).

Anna Vorobyeva is characterizing human autism - associated single nucleotide variants (SNVs) in genes encoding proteins that regulate global protein synthesis.

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.

However, when we extracted gene expression levels from the brain transcriptome data following the methodology in Carneiro et al. [29], we found that levels of nucleotide diversity and the proportion of low frequency variants between lowly (bottom 5 %) and highly (top 5 %) expressed genes in our dataset (Table S7) were not significantly different in most comparisons (with the exception of π in O. c. cuniculus) nor did they consistently differ in the expected direction when assuming higher error rates in lowly expressed genes.

First, Dr. Shendure described some interesting experiments under way in his lab to elucidate the function of non-coding regulatory variants — specifically, single nucleotide changes in the core promoter that alter gene transcription.

The tool allows for the prioritization of single nucleotide variants to identify those that are likely to be involved in disease.

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.

To explore the possibility of common genetic pathways within the respective pathophysiologies, nine ADHD candidate single nucleotide polymorphisms (SNPs) in seven genes were tested for association with PD in 5333 cases and 12,019 healthy controls: one variant, respectively, in the genes coding for synaptosomal - associated protein 25 k (SNAP25), the dopamine (DA) transporter (SLC6A3; DAT1), DA receptor D4 (DRD4), serotonin receptor 1B (HTR1B), tryptophan hydroxylase 2 (TPH2), the norepinephrine transporter SLC6A2 and three SNPs in cadherin 13 (CDH13).

In addition, extended functionality enables representation of single - nucleotide variants, post-translational modifications, and quantitative features.

Among the top hits was a variant adjacent to the gene for PDE10A, a cyclic nucleotide phosphodiesterase involved in regulating smooth muscle contraction, including the muscles that surround the spleen.

In addition to the large CNV mutations they had spotted earlier, they also found de novo changes in single base pairs of DNA — known as single - nucleotide variants (SNVs)-- and small de novo insertions or deletions in chromosomes, all of which made the picture even more compleIn addition to the large CNV mutations they had spotted earlier, they also found de novo changes in single base pairs of DNA — known as single - nucleotide variants (SNVs)-- and small de novo insertions or deletions in chromosomes, all of which made the picture even more complein single base pairs of DNA — known as single - nucleotide variants (SNVs)-- and small de novo insertions or deletions in chromosomes, all of which made the picture even more complein chromosomes, all of which made the picture even more complex.

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.

With these aspects in mind, I would certainly want to see this used in mutations with single nucleotide substitutions (variants) that characterize most ADAD mutations, and like to see the further development of the embryos as it relates to normal development after the normal sequence is introduced.

Genetic variants called single nucleotide polymorphisms (SNPs) play a greater role in the metabolism of the human brain compared to almost all the other organs.

Methods.: Dogs of various breeds, affected or unaffected with primary glaucoma, were genotyped for the Gly661Arg variant of ADAMTS10, as well as 7 other nonsynonymous single nucleotide polymorphisms (SNPs) in other genes in the beagle POAG locus that segregate with disease.