Sequence variation refers to differences or changes in the order or arrangement of genetic material, specifically in the DNA sequence. It means that there are slight variations or alterations in the genetic code present within a population or between individuals.
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As such, an individual who can assist in the development, implementation, and application of algorithms to characterize and interpret
sequence variation in the context of cancer is needed.
With more than 15 million entries in dbSNP, single nucleotide polymorphisms (SNPs) remain the most common form of
DNA sequence variation in humans.
Kittles says his company matches people probabilistically based on the frequency of their
particular sequence variations in different African populations.
Various procedures are currently available to detect genetic defects in embryos prior to implantation, but these approaches are often invasive, requiring the removal of cells from the growing embryo, and do not simultaneously detect both chromosomal abnormalities and DNA
sequence variations associated with genetic disorders.
Howard Hughes Medical Institute researchers who have
analyzed sequence variations in two genes that regulate brain size in human populations have found evidence that the human brain is still evolving...
After looking at 9 million genetic variants in those who were asparagus anosmic, they linked this deficiency to 871
individual sequence variations they discovered in chromosome 1, on genes associated with our sense of smell.
Using Atlantic killifish (Fundulus heteroclitus), the researchers examined whether mitochondrial - nuclear interactions alter the frequency of alternative forms of a gene that arise by mutation, called alleles, for over 11,000 nuclear DNA
sequence variations within a population of the fish with mixed ancestry.
«Figuring out the exact DNA
sequence variations responsible and how they influence the disease process should provide us with a guide for developing drugs that we hope could have a much larger effect than the one to six years produced by the natural variations, possibly even preventing symptom onset altogether.
Thus far, Pääbo's group has identified a number of modern human genome regions
containing sequence variation that is not seen in Neandertals and that may have helped modern humans adapt.
To address this gap in knowledge, Bryc and her collaborators analyzed DNA
sequence variations called single - nucleotide polymorphisms in the genomes of 5,269 self - described African Americans, 8,663 Latinos, and 148,789 European Americans.
How do we identify those variants, or combinations of variants (patterns), that are of importance for the phenotype, given that the functionally relevant variants represent only a subset of the naturally
occurring sequence variation?
Additional examination of the two genes in anoxeria - prone families gave the researchers a handle on which DNA
sequence variations conferred the most risk.
Professor Segal's research has two major directions 1) Gene regulation — using quantitative and computational models to understand how DNA
sequence variation among human individuals generates phenotypic diversity 2) Microbiome and Nutrition — understanding how the microbial composition of individuals affect their physiology and health.
The whole - genome sequencing data yielded a strong association between SSS and a rare missense mutation in MYH6 that could not be accounted for by any
other sequence variation.
First, we exclude any variants that are present in the normal (germline)-- which account for the majority of
true sequence variations.
These methods have been used to reconstruct the genomes of previously unsequenced organisms,
probe sequence variations, and explore a host of biological features across the tree of life.
In a study published today, scientists at deCODE genetics use genomic and genealogical data from across the population of Iceland over many decades to show that people who
carry sequence variations linked to higher levels of education have fewer children than average...
New technologies allow extensive sequencing to be carried out to
analyse sequence variation, transcription, epigenetics and other phenomena.
Higher 5 - HTT CpG methylation, but
not sequence variation in the serotonin transporter promoter region, exacerbates the effects of early life stress on behavioral stress reactivity.
The association of DNA
sequence variation at the MAOA genetic locus with quantitative behavioural traits in normal males
For example, a polymorphism (that is, a
particular sequence variation in the DNA among individuals from a particular population) called rs1333049 on chromosome 9p21.3 is related to chronic ailments associated with aging, mainly with cardiovascular diseases.
Through whole - genome sequencing of individual egg cells, the new method detects chromosomal abnormalities and DNA
sequence variations associated with genetic disorders.
So geneticists have been focusing on the dog as a possible model for gene searches because this lack
of sequence variation may help them circumvent a frequent problem with studies in humans.
Next generation sequencing is being used to discover the whole - genome
sequence variation in 1001 strains of Arabidopsis thaliana.
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.
By increasing the speed and accuracy for NGS data analysis like whole genome sequencing (WGS), our computing platform makes it easier to discover links between DNA
sequence variations and human disease.»
DNA polymorphism in the Y chromosome, examined at a 729 - base pair intron located immediately upstream of the ZFY zinc - finger exon, revealed
no sequence variation in a worldwide sample of 38 human males.
Trent and others says that the same mechanism might be at work in genes linked to other cancers, such as breast and prostate cancer, which have been found to contain similar «harmless»
sequence variations.
Dart - biopsy samples from 195 free - ranging African elephants in 21 populations were examined for DNA
sequence variation in four nuclear genes (1732 base pairs).
The new paper details how the team was able to make reliable measurements of
the sequence variation along the Y chromosome — which is handed down only from father to son without exchanging, or recombining, genetic material with other chromosomes.
The amount of methylation was a better predictor of amygdala activity than DNA
sequence variation, which had previously been associated with risk for depression and anxiety.
Specific genetic markers were sought, especially single - nucleotide polymorphisms (SNPs), a type of DNA
sequence variation that accounts for over 90 % of genetic variation in the human genome.
GenProfile focuses on the systematic analysis of DNA
sequence variation in biomedically relevant genes in order to identify those variants, or combinations of variants (gene profiles), that determine an individual's genetic risk for disease, predict individually different drug response, and ultimately pave the way to a personalized medicine.
UCSF [University of California, San Francisco]'s Institute for Human Genetics is participating, too, looking at genome -
sequence variations.
We're collecting about 100,000 telomere lengths in saliva samples and then looking at how those relate to both the extensive longitudinal clinical records that Kaiser is collecting and the genome
sequence variations.