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DNA genomic loci

Molecular classification
Other
01

Overview

A genomic locus (plural: loci) is a specific, fixed position on a chromosome where a gene or genetic marker is located. The term is foundational in genetics and genomics, used to reference the exact site of particular DNA sequences, genes, or variants within the genome. Genomic loci can range from sites of single nucleotide polymorphisms (SNPs), insertion/deletion events, or the positions of entire genes and regulatory regions. Loci are frequently identified in the study of heritable traits and complex diseases through approaches such as genome-wide association studies (GWAS), which link specific DNA loci to phenotypes or disease risks. These loci themselves are not targets for drugs, but rather physical regions that may contain genes or regulatory elements that can be targets for investigation or, indirectly, for modulation via gene editing, antisense oligonucleotides, or similar technologies. The term is too broad and unspecific to serve as a proper molecular or therapeutic target.

Other names
genomic locusgenetic locus
02

Biological functions

Encodes genes and regulatory elementsDetermines genetic variation and inheritance patternsCan harbor mutations or polymorphisms associated with traits or diseases
03

Disease associations

CancerCardiovascular diseaseNeurodegenerative diseasePolygenic diseases (general category)

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