Academia.eduAcademia.edu

Human Population Genetics

description610 papers
group2,041 followers
lightbulbAbout this topic
Human Population Genetics is the study of genetic variation within and between human populations, focusing on the distribution of alleles, genetic diversity, and evolutionary processes. It examines how historical, environmental, and social factors influence genetic structure and adaptation in human groups.
lightbulbAbout this topic
Human Population Genetics is the study of genetic variation within and between human populations, focusing on the distribution of alleles, genetic diversity, and evolutionary processes. It examines how historical, environmental, and social factors influence genetic structure and adaptation in human groups.

Key research themes

1. How can genome-wide sequencing and advanced coalescent models infer ancient human demographic events and population divergence times?

This research area focuses on leveraging high-coverage individual human genome sequences combined with Bayesian coalescent-based inference methods to estimate key parameters of ancient human demography, including ancestral effective population sizes, divergence times among major populations such as the San and Eurasian groups, and historical migration rates. Addressing challenges in data heterogeneity and genotype phasing, these studies provide refined temporal frameworks for early human population splits and migration out of Africa, which are critical for reconstructing human evolutionary history.

Key finding: This study developed a generalized phylogenetic coalescent sampler (G-PhoCS) that relaxes prior assumptions of no gene flow and phased haploid samples, enabling inference of divergence times and effective population sizes... Read more
Key finding: Utilizing whole-genome data from the 1000 Genomes Project alongside simulations, the paper demonstrates that recent human demographic events, particularly bottlenecks and expansions, modulate the genome-wide impact of... Read more
Key finding: This methodological contribution introduces NeON, an R package that estimates effective population size (Ne) and population divergence times from LD patterns across different recombination distance bins in dense genome-wide... Read more

2. What is the role of structural variants, such as copy number variations, in shaping human population genetic diversity and adaptation?

This theme investigates the genomic landscape and population distribution of copy number variants (CNVs) and other structural variants across globally diverse human populations via high-coverage sequencing. Focus is placed on the differential selective and population stratification signatures between duplications and deletions, reconstructing ancestral CNV events including introgression from archaic hominins like Denisovans. These studies reveal the contribution of structural variants to population-specific genetic architecture, reveal historical lineage-specific losses and gains in the genome, and advance insight into human evolutionary adaptation.

Key finding: Sequencing 236 individuals from 125 populations, this study reveals that duplications display distinct population genetic patterns compared to deletions, being more stratified among human groups. Notably, large duplications... Read more
Key finding: Genome-wide analysis identified an excess of ancient human deletion polymorphisms predating the modern human-Neanderthal split, inconsistent with neutral evolution alone. The findings implicate balancing selection maintaining... Read more

3. How do human population genetics methods inform the interpretation of race, ancestry, and biomedical implications in diverse and admixed populations?

This research stream critically examines the biological and conceptual basis of race and genetic ancestry in human population genetics and biomedical research. It scrutinizes clustering versus clinal variation, debates methodological limitations, and warns against the instrumentalization of continental ancestry categories which may reinforce race-related misconceptions. Complementing this, investigations on local and global ancestry inference in admixed populations enable better resolution of population history and improve genetic mapping of complex diseases, thereby refining personalized medicine and addressing health disparities.

Key finding: Through an interdisciplinary framework, this paper argues that clustering human populations by continental boundaries is empirically incoherent and that human genetic variation is better understood as clinal rather than... Read more
Key finding: This review synthesizes methodologies for estimating global and local genetic ancestry in admixed populations, explicating how admixture-induced linkage disequilibrium patterns enable precise inference of ancestry tracts. It... Read more
Key finding: The article critiques the prevalent use of continental categories as proxies for genetic ancestry, highlighting their ambiguity and confounding with socio-political race constructs. It advocates for a multidimensional,... Read more

All papers in Human Population Genetics

The history of the Albanian people has long been debated, as they first appear in historical records in the eleventh century CE and their language is not closely related to any surviving Indo-European branches. Here, to reconstruct their... more
A investigação do vínculo genético começou no início do século XX com as descobertas de Landesteiner sobre o sistema ABO. Até aos anos 50 as formas de produção de prova eram apenas os sistemas ABO, Rh e MN, do grupo de identificação... more
Literary and archaeological sources have preserved a rich history of Southern Europe and West Asia since the Bronze Age that can be complemented by genetics. Mycenaean period elites in Greece did not differ from the general population and... more
ÐÀÇÂÎÄÎÂÑÊÈÉ Þ.Å. c.í.ñ., ëà áî ðà òî ðèÿ ìå äè êî-áèî ëî ãè ÷å ñêèõ ïðîá ëåì íàð êî ëî ãèè Ãðîä íåí ñêèé ãî ñó äàð ñò âåí íûé ìå äè öèí ñêèé óíè âåð ñè òåò, Áåëàðóñü;
Data and Methodology We use rotation curve data from the SPARC database (Lelli et al., 2016), which provides, for each galaxy: • observed velocity , • gas, disk, and bulge contributions: , • observational uncertainties. The baryonic... more
Most studies focusing on human high-altitude adaptation in the Andean highlands have thus far been focused on Peruvian populations. We present high-coverage whole genomes from Indigenous people living in the Ecuadorian highlands and... more
Literary and archaeological sources have preserved a rich history of Southern Europe and West Asia since the Bronze Age that can be complemented by genetics. Mycenaean period elites in Greece did not differ from the general population and... more
É autorizada a reprodução integral desta dissertação apenas para efeitos de investigação mediante declaração escrita do interessado, que a tal se compromete. iii O presente trabalho não seria possível sem a ajuda e o apoio de determinadas... more
Изучен эффект масляного экстракта куркумы при алкогольном повреждении печени и миелосупрессии, индуцированной циклофосфаном у мышей. Установлено миело- и гепатопротекторное действие экстракта куркумы. Показано, что экстракт куркумы... more
Literary and archaeological sources have preserved a rich history of Southern Europe and West Asia since the Bronze Age that can be complemented by genetics. Mycenaean period elites in Greece did not differ from the general population and... more
Modern craniometry has undergone a profound transformation driven by advances in three-dimensional (3D) analytical methods, population genetics, and critical reassessments of the biological concept of race. Historically, craniometric... more
A persistent claim in Afrocentric discourse positions modern West African populations as the ancestral baseline for all humanity, arguing that they represent an unchanged or "pure" form of early Homo sapiens from which all other... more
Since colonial times, attempts at racial classification and naming the diversity and potpourri of India’s population have remained controversial. However, the postgenomic era has created an impetus within the life sciences to study human... more
Literary and archaeological sources have preserved a rich history of Southern Europe and West Asia since the Bronze Age that can be complemented by genetics. Mycenaean period elites in Greece did not differ from the general population and... more
by Bao Do
High mutation rate in mammalian mitochondrial DNA generates a highly divergent pool of alleles even within species that have dispersed and expanded in size recently. Phylogenetic analysis of 277 human mitochondrial genomes revealed a... more
Literary and archaeological sources have preserved a rich history of Southern Europe and West Asia since the Bronze Age that can be complemented by genetics. Mycenaean period elites in Greece did not differ from the general population and... more
As humanity advances toward long-term space habitation, maintaining crew cohesion, resilience, and utility in confined, high-stakes environments presents a critical challenge. Building on the growing evidence that behavior is deeply... more
Background: Viral hepatitis disease is a major public health problem affecting hundreds to millions of individuals worldwide. The most widely recognized types of viral hepatitis are six distinct types of hepatitis virus, referred to as A,... more
Most individuals throughout the Americas are admixed descendants of Native American, European, and African ancestors. Complex historical factors have resulted in varying proportions of ancestral contributions between individuals within... more
Background Genetic admixture is a common caveat for genetic association analysis. Therefore, it is important to characterize the genetic structure of the population under study to control for this kind of potential bias. Results In this... more
The Genographic Project is an international effort aimed at charting human migratory history. The project is nonprofit and nonmedical, and, through its Legacy Fund, supports locally led efforts to preserve indigenous and traditional... more
Radioactive waste, an inevitable byproduct of nuclear technologies, presents a profound and persistent environmental threat. Its improper management can lead to severe soil pollution, initiating a cascade of detrimental effects throughout... more
This study explores the structural and electronic properties of copper(II) and cobalt(II) complexes with toluidine dithiocarbamate ligands using X-ray Absorption Near Edge Structure (XANES) and Extended X-ray Absorption Fine Structure... more
The consequence of rapid Industrialization and fertilizers, Insecticide are uses around, the globe an unsafe water. Waste and pollutant content have become increasingly significant within effect of quality of Aquatic Ecosystem in river.... more
The study reports the histopathological changes in the liver of the fresh water fish Channa punctatus exposed to sublethal safe concentration of watersoluble fraction (WSF) Diesel (8.7 ml/l) fuel for 30 days. Similar lesions were induced... more
Childhood emergencies pose significant challenges globally, requiring effective and evidence-based management strategies. This meta-analysis evaluates current research on paediatricemergency care, identifying best practices, gaps, and... more
Dichlorvos, an organophosphate insecticide, is highly toxic to fish. It disrupts the nervous system by inhibiting acetylcholinesterase, an enzyme crucial for nerve function. Even at low concentrations, dichlorvos can cause behavioral... more
In India, e-waste is quickly turning into a health and environmental risk. E-waste is produced by computers and related products, as well as other electronic devices (television, refrigerators, washing machines, and so forth). Stories... more
Waste generation, accumulation and remediation is one of the biggest challenges for achievement of sustainable development. Industrial revolution has led to high waste generation and release of non-degradable toxic elements to environment... more
The purpose of the research is to investigate how Bharatiya music affects prenatal development and the environment during pregnancy. Through this research, we are seeking to shed light on the ways that music-specifically, traditional... more
Many chemicals are applied to control plant diseases to increase crop production.The Agricultural Chemicals are insecticides and herbicides.Hazardous chemicals escape to the environment by a number of natural and/or anthropogenic... more
Air pollution is one of the major environmental problems. It can cause serious health consequences such cancer. heart disease and high mortality rates. The people of Rajasthan contribute significantly to air pollution in urban and rural... more
The earth's part is blessed with extraordinarily different forms of resources which offer unnumbered product & services to humankind. Any portion of the nature's surroundings present, that can be used by man to market his welfare is taken... more
Literary and archaeological sources have preserved a rich history of Southern Europe and West Asia since the Bronze Age that can be complemented by genetics. Mycenaean period elites in Greece did not differ from the general population and... more
Literary and archaeological sources have preserved a rich history of Southern Europe and West Asia since the Bronze Age that can be complemented by genetics. Mycenaean period elites in Greece did not differ from the general population and... more
Background: It is well known that the pattern of linkage disequilibrium varies between human populations, with remarkable geographical stratification. Indirect association studies routinely exploit linkage disequilibrium around genes,... more
Our study applies a systematic computational genomic approach to investigate the complex population dynamics of Southern Slavs in the Hungarian Plain and Avar Khaganate, and their subsequent role in forming the medieval Croatian... more
Literary and archaeological sources have preserved a rich history of Southern Europe and West Asia since the Bronze Age that can be complemented by genetics. Mycenaean period elites in Greece did not differ from the general population and... more
Literary and archaeological sources have preserved a rich history of Southern Europe and West Asia since the Bronze Age that can be complemented by genetics. Mycenaean period elites in Greece did not differ from the general population and... more
Introduction to subject of forensic genealogy employing worldwide STR frequency analysis, focusing on DNA Consultants' Helen, Sundaland and Odin Genes, among other rare haplotypes.
Download research papers for free!