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Updated: Nov 11, 2025

Characterizing Mutational Load and Clonal Composition of Human Blood
Published on: July 11, 2019
A snapshot of human leukocyte antigen (HLA) diversity using data from the Allele Frequency Net Database
Faviel F Gonzalez-Galarza1, Antony McCabe2, Eduardo J Melo Dos Santos3
1Center for Biomedical Research, Faculty of Medicine, Autonomous University of Coahuila, Torreon, Mexico.
Abstract:
The extensive allelic variability observed in several genes related to the immune response and its significance in different areas including transplantation, disease association studies, diversity in human populations, among many others, has led the scientific community to analyse these variants among individuals. Serving as an electronic data warehouse, the Allele Frequency Net Database (AFND, http://www.allelefrequencies.net) contains data on the frequency of immune related genes and their corresponding alleles from more than 1700 worldwide population samples covering more than ten million unrelated individuals. The collection of population data sets available in AFND encompasses different polymorphic regions including the highly-polymorphic human leukocyte antigen (HLA) system for which more than 1200 populations are available. In this article, we provide an insight of the high diversity found in the HLA region by examining population data sets stored in AFND, as well as a description of the available data sets for further analyses.
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