«White males with a single
nucleotide variation in KITLG, called the G allele, have the highest odds of having testicular cancer.
Not exact matches
In genome - wide association studies (GWAS), researchers focus on typical variations in genomes, so - called SNPs (single nucleotide polymorphisms
In genome - wide association studies (GWAS), researchers focus on typical
variations in genomes, so - called SNPs (single nucleotide polymorphisms
in genomes, so - called SNPs (single
nucleotide polymorphisms).
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.
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.
A SNP is a
variation of one
nucleotide, or DNA «letter,» at a specified location
in the genome.
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.
Variation in the pattern of
nucleotide substitution across sites Huelsenbeck, J. P. and R. Nielsen.
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.
Variation in the pattern of
nucleotide substitution across sites.
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.
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.
PULLMAN — Researchers at Washington State University have identified a new class of DNA sequence
variation in gene promoter regions that could help control the activity of genes.The novel
variations, dubbed «multiple
nucleotide length polymorphisms,» or MNLPs, altered transcription of the genes they were associated with as much as 11-fold.
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.
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.
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.
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].