Sentences with phrase «variant alleles»
Variant alleles refer to alternative forms of a specific gene. Every gene consists of two alleles, with one inherited from each parent. Variant alleles are different versions of the same gene, which may have slight variations in their characteristics or functions. These variants can affect traits and contribute to genetic diversity within a population. Full definition
As a central repository for variant allele frequency (VAF) data, dbSNP can be a powerful resource for human genetics studies.
massgenomics.org
Stice's group also genotyped these young women to determine whether or not they possessed variant alleles of two genes (DRD2 Taq1A A1 and DRD4 - 7 +) that have been linked with lower dopamine activity and, in some studies, obesity.
«People with the genetic variant allele have an even higher increased risk of colorectal cancer if they consume high levels of processed meat, but the baseline risk associated with meat is already pretty bad.»
Here, the individual read counts supporting reference and variant alleles become important in distinguishing true variants and assessing their frequencies in a pool.
Subsequent experimental work demonstrated that mir204 plays a role in ocular development and that the variant allele severely altered its targeting abilities.
The variant allele disrupts predicted binding sites for two transcription factors (MEF2C and CDX2) and creates possible binding sites for at least two others.
Of particular relevance for rare disease genetics are the variant allele frequencies (VAFs) in worldwide populations.
If certain genetic variations are found to be more frequent in people with the disease compared to people without disease, the variant alleles are said to be «associated» with the disease.
Next, we looked at the observed variant frequencies, calculated as the relative fraction of reads supporting reference or variant alleles.
+ / + - Homozygotes for this variant allele in the CTH gene had significantly higher plasma homocysteine levels than other genotypes in a cohort of 496 Caucasian individuals.