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Call for papers - Genomics of isolated human populations

Guest Editors

Hoh Boon-Peng, PhD, IMU University, Malaysia
Kaixiong Ye, PhD, University of Georgia, United States

Submission Status: Open   |   Submission Deadline: 28 March 2025

BMC Genomics is launching a new Collection focusing on the genomics of isolated human populations, aiming to explore their genetic makeup, evolutionary dynamics, unique genomic features, and disease susceptibility. These populations offer valuable insights into human genetics and evolution due to their genetic isolation, which can result in the accumulation of rare variants, genetic drift, and founder effects. Understanding these populations is crucial for deciphering human genetic diversity, contributing to disease etiology and treatment strategies, and advancing personalized medicine. Topics of interest include population bottleneck, consanguinity, high-throughput sequencing, transcriptomic insights, comparative genomics, and genomics of disease susceptibility in isolated populations.

New Content ItemThis Collection supports and amplifies research related to SDG 3: Good Health & Well-Being.

Meet the Guest Editors

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Hoh Boon-Peng, PhD, IMU University, Malaysia

Professor Dr Hoh Boon-Peng is a molecular and population geneticist, currently affiliated with the Division of Applied Biomedical Sciences and Biotechnology, School of Health Sciences, IMU University, Malaysia. Dr Hoh obtained his PhD from Universiti Putra Malaysia. His research interests include human genome variation and population genetics. Of particular interest, he studies the human migration history and genomic local adaptation of Southeast Asia indigenous populations (notably the Orang Asli), and its implication on common and complex diseases. He seeks to address the fundamental question of the functions of genomic variation and how its interaction with the environment shapes the human traits and complex disease, ultimately to contribute to the approach of precision medicine. 

Kaixiong Ye, PhD, University of Georgia, United States

Dr Kaixiong Ye is an associate professor in the Department of Genetics and the Institute of Bioinformatics at the University of Georgia. He received his doctoral and postdoctoral training in Human Population Genetics and Nutritional Genomics. He studied genetic adaptation to diets during human evolution. Since starting his independent research group in 2018, Dr Ye expanded his research into gene-diet interactions by integrating research approaches from population, quantitative, and molecular genetics. He strives to understand how human evolutionary history has shaped the genetic variations underlying human metabolism and individual nutritional requirements.

About the Collection

BMC Genomics is launching a new Collection on Genomics of isolated human populations. This Collection aims to showcase research exploring the genetic makeup, evolutionary dynamics, unique genomic features, and disease susceptibility of human populations living in isolation.

Isolated human populations, often residing in geographically constrained regions or culturally distinct communities, offer invaluable insights into various aspects of human genetics and evolution. Their genetic isolation can lead to the accumulation of rare variants, genetic drift, and founder effects, which in turn shape their genomic architecture and susceptibility to diseases.

Research into isolated human populations has advanced health sciences by uncovering rare genetic variants linked to diseases and longevity. These discoveries have provided targets for drug development and precision medicine. For instance, studies on these populations have identified genetic factors associated with diabetes and cardiovascular disorders, aiding the creation of targeted treatments. Additionally, understanding the unique genetic adaptations in isolated populations has revealed novel biological pathways and mechanisms. These include adaptations to hypoxia in high-altitude populations, providing insights into respiratory and cardiovascular health; lipid metabolism variations in populations with traditional diets, offering new perspectives on obesity and heart disease; and unique immune system adaptations that help in understanding autoimmune diseases and infection resistance. Continued research in this area promises further breakthroughs in personalized medicine, population health management, and genomics, ultimately enhancing healthcare outcomes and deepening our understanding of human genetic diversity.

We invite submissions that investigate the genomics of isolated human populations from diverse perspectives. Topics of interest include, but are not limited to:

•    Population bottleneck and genomic resilience
•    Genomic signatures of consanguinity
•    High-throughput sequencing in isolated populations
•    Comparative studies of isolated populations in different geographical areas 
•    Transcriptomic insights into genetic adaptations
•    Genomic consequences of geographic isolation
•    Comparative genomics and cross-population studies
•    Genomic adaptations to local environments
•    Disease susceptibility and genetic disorders in isolated populations
•    Founder effects and genetic drift  

This Collection supports and amplifies research related to SDG 3: Good Health & Well-Being.

Image credit: © MicroOne /

There are currently no articles in this collection.

Submission Guidelines

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This Collection welcomes submission of original Research Articles. Should you wish to submit a different article type, please read our submission guidelines to confirm that type is accepted by the journal. Articles for this Collection should be submitted via our submission system, Snapp. During the submission process you will be asked whether you are submitting to a Collection, please select "Genomics of isolated human populations" from the dropdown menu.

Articles will undergo the journal’s standard peer-review process and are subject to all of the journal’s standard policies. Articles will be added to the Collection as they are published.

The Editors have no competing interests with the submissions which they handle through the peer review process. The peer review of any submissions for which the Editors have competing interests is handled by another Editorial Board Member who has no competing interests.