SNVstory: inferring genetic ancestry from genome sequencing data.

ABSTRACT:

Background

Genetic ancestry, inferred from genomic data, is a quantifiable biological parameter. While much of the human genome is identical across populations, it is estimated that as much as 0.4% of the genome can differ due to ancestry. This variation is primarily characterized by single nucleotide variants (SNVs), which are often unique to specific genetic populations. Knowledge of a patient's genetic ancestry can inform clinical decisions, from genetic testing and health screenings to medication dosages, based on ancestral disease predispositions. Nevertheless, the current reliance on self-reported ancestry can introduce subjectivity and exacerbate health disparities. While genomic sequencing data enables objective determination of a patient's genetic ancestry, existing approa

SUBMITTER: Bollas AE 

PROVIDER: S-EPMC10877842 | biostudies-literature | 2024 Feb

REPOSITORIES: biostudies-literature