genetic variant
[jəˈnetɪk ˈveəriənt]
nounpl: genetic variants
variante genética
1. A difference in DNA sequence at a specific location in the genome that occurs in a population, including single nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations
The genetic variant in the BRCA1 gene increases the risk of breast cancer.
A variante genética no gene BRCA1 aumenta o risco de câncer de mama.
2. An alternative form of a gene or DNA sequence that differs from the reference genome at one or more positions
Researchers identified a rare genetic variant associated with the disease.
Os pesquisadores identificaram uma variante genética rara associada à doença.
3. In population genetics, any deviation from the most common DNA sequence at a given locus
This genetic variant is found in approximately 15% of the European population.
Esta variante genética é encontrada em aproximadamente 15% da população europeia.
This is a technical term widely used in medical genetics, genomics research, and precision medicine in both Brazil and the USA. With the advancement of genomic medicine and personalized healthcare, the term has become increasingly common in scientific publications, medical consultations, and genetic counseling sessions. In Brazil, the term is used extensively in major research institutions like USP, UFRJ, and in medical centers offering genetic testing services.
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