Human Diversity Research Articles

The evolution of dbSNP: 25 years of impact in genomic research.

The Single Nucleotide Polymorphism Database (dbSNP), established in 1998 by the National Center for Biotechnology Information (NCBI), has been a critical resource in genomics for cataloging small genetic variations. Originally focused on single nucleotide polymorphisms (SNPs), dbSNP has since expanded to include a variety of genetic variants, playing a key role in genome-wide association studies (GWAS), population genetics, pharmacogenomics, and cancer research. Over 25 years, dbSNP has grown to include more than 4.4 billion submitted SNPs and 1.1 billion unique reference SNPs, providing essential data for identifying disease-related genetic variants and studying human diversity. Integrating large-scale projects like 1000 Genomes, gnomAD, TOPMed, and ALFA has expanded dbSNP's catalog of human genetic variation, increasing its usefulness for research and clinical applications. Keeping up with advancements such as next-generation sequencing and cloud-based infrastructure, dbSNP remains a cornerstone of genetic research supporting continued discoveries in precision medicine and population genomics. DATABASE URL: https://www.ncbi.nlm.nih.gov/snp.

Elevating the human experience through service standards: insights from the global refugee crisis

PurposeThis article proposes a set of three service standards for serving humanity; develops the Agency, Dignity and Diversity (ADD) Service Standards Framework; integrates these standards with human experience; and then applies this framework to refugee service experiences.Design/methodology/approachBuilding on Transformative Service Research (TSR), we propose service standards for humanity and connect these standards to elevating the human experience. Subsequently, the ADD Service Standards Framework for serving humanity is presented and applied to the human experiences of refugees.FindingsThree service standards for serving humanity are proposed: empowering human agency, respecting human dignity and honoring human diversity. Further, we apply these three standards to offer a set of standard-specific practical actions adapted to the plight of refugees.Practical implicationsThe practical implications affect all aspects of humanity’s service systems. Service standards should be universal, responsive to various needs of individuals and groups and adaptable to changing needs.Originality/valueThis paper contributes service standards for guiding service systems of any kind in serving humanity and provides a comprehensive framework for designing and implementing service standards that can elevate the human experience.

Bioclimatic and masticatory influences on human cranial diversity verified by analysis of 3D morphometric homologous models

This study analyzes the effects of bioclimate and masticatory factors on the regional variability of human cranial forms across 150 ethnic groups worldwide. Morphometric variables were generated using principal component analysis applied to 3D homologous models. Relationships between cranial form and bioclimate (temperature and precipitation) and masticatory factors (infratemporal space) were tested considering sampling bias due to past population movements during the late Pleistocene and/or early- to mid-Holocene. Cranial size correlated with thermal conditions, consistent with Bergmann’s rule. The length/breadth proportion of the neurocranium aligned with Allen’s rule for thermal adaptation, while no relationship with masticatory stress was found. Facial form responded to either climate or masticatory conditions, although the primary factor was unclear due to the high correlation between stresses. However, masticatory stress was identified as an equally significant factor behind facial flatness in cold regions, else than the effect of Allen’s rule. High narrowness of nasal and orbital openings correlated significantly with cold temperatures and cranial size, suggesting not only functional but also allometric effect. This study demonstrated the complexity of environmental influences on cranial form diversity, nonetheless suggested reduction of selective pressure on cranial form caused by natural environmental stress due to the development of civilization.

Playing with words: Comparing the vocabulary and lexical diversity of ChatGPT and humans

The introduction of Artificial Intelligence (AI) generative language models such as GPT (Generative Pre-trained Transformer) and conversational tools such as ChatGPT has triggered a revolution that can transform how text is generated. This has many implications, for example, as AI-generated text becomes a significant fraction of the text, would this affect the language capabilities of readers and also the training of newer AI tools? Would it affect the evolution of languages? Focusing on one specific aspect of the language: words; will the use of tools such as ChatGPT increase or reduce the vocabulary used or the lexical diversity? This has implications for words, as those not included in AI-generated content will tend to be less and less popular and may eventually be lost. In this work, we perform an initial comparison of the vocabulary and lexical diversity of ChatGPT and humans when performing the same tasks. In more detail, two datasets containing the answers to different types of questions answered by ChatGPT and humans, and a third dataset in which ChatGPT paraphrases sentences and questions are used. The analysis shows that ChatGPT-3.5 tends to use fewer distinct words and lower diversity than humans while ChatGPT-4 has a similar lexical diversity as humans and in some cases even larger. These results are very preliminary and additional datasets and ChatGPT configurations have to be evaluated to extract more general conclusions. Therefore, further research is needed to understand how the use of ChatGPT and more broadly generative AI tools will affect the vocabulary and lexical diversity in different types of text and languages.

『동의보감』의 생명관 연구 : 천인상응사상(天人相應思想)을 중심으로

This paper aims to seek a path to essential understanding and insight into Donguibogam by examining the holistic view of life contained in Donguibogam, focusing on the idea of‘correspondence between nature and human thought(天人相應思想)’. To this end, this paper examines the ideological origin and meaning of the idea of ‘ correspondence between nature and human thought’, and examines how the idea of ‘correspondence between nature and human thought’, was accepted and developed in Donguibogam. In the Donguibogam, it is emphasized that human life, which originates from qi, has a form that resembles nature and operates along with all things according to the principles of yin-yang and the five elements, and that in order to maintain health and prevent disease, the body must be governed by harmonizing and complying with the laws of nature. In addition, it explains the dynamic corresponding structure of nature and human through the movement of yin-yang and exhaustion of qi. As such, the holistic view of life in the Donguibogam based on the idea of the correspondence between heaven and man, that is, the understanding that not only each organ of the body but also the body and mind, and the body and the external environment are organically related to each other through one-qi(一氣), will give us insight into how to fully preserve life along with the realization that our own life is cosmic life. I hope that this study will help establish an ecological life culture that respects the diversity of humanity and life and practices coexistence in the future.

Disability Arts and Disability Aesthetics

Disability aesthetics has emerged in the modern/contemporary era as a critical approach that challenges traditional notions of beauty, wholeness, and normalcy in art. By centering the experiences and perspectives of disabled individuals, disability aesthetics seeks to subvert ableist assumptions and stereotypes, presenting disability as a natural part of human diversity. This paper aims to explore how disability aesthetics challenges ableism, expands our understanding of art and beauty, and brings about societal changes through a critical analysis of various examples of disability arts in the modern/contemporary era. However, this paper also acknowledges the potential pitfalls within the field of disability aesthetics. These include the risk of fetishization or exoticization of disability, and the need for a more intersectional analysis that considers how disability intersects with other marginalized identities. As disability aesthetics continues to evolve, it is crucial to address these challenges and work towards a more nuanced and inclusive understanding of disability representation in art. Given this, by critically examining both the strengths and limitations of disability aesthetics, this paper aims to contribute to the ongoing dialogue about representation, identity, and artistic expression in the context of disability. Ultimately, it underscores the importance of continual reflection and refinement within the field to ensure that disability aesthetics remains a powerful tool for social change and artistic innovation.

Extended multi-stream temporal-attention module for skeleton-based human action recognition (HAR)

Graph convolutional networks (GCNs) are an effective skeleton-based human action recognition (HAR) technique. GCNs enable the specification of CNNs to a non-Euclidean frame that is more flexible. The previous GCN-based models still have a lot of issues: (I) The graph structure is the same for all model layers and input data. GCN model's hierarchical structure and human action recognition input diversity make this a problematic approach; (II) Bone length and orientation are understudied due to their significance and variance in HAR. For this purpose, we introduce an Extended Multi-stream Temporal-attention Adaptive GCN (EMS-TAGCN). By training the network topology of the proposed model either consistently or independently according to the input data, this data-based technique makes graphs more flexible and faster to adapt to a new dataset. A spatial, temporal, and channel attention module helps the adaptive graph convolutional layer focus on joints, frames, and features. Hence, a multi-stream framework representing bones, joints, and their motion enhances recognition accuracy. Our proposed model outperforms the NTU RGBD for CS and CV by 0.6% and 1.4%, respectively, while Kinetics-skeleton Top-1 and Top-5 are 1.4% improved, UCF-101 has improved 2.34% accuracy and HMDB-51 dataset has significantly improved 1.8% accuracy. According to the results, our model has performed better than the other models. Our model consistently outperformed other models, and the results were statistically significant that demonstrating the superiority of our model for the task of HAR and its ability to provide the most reliable and accurate results.

Human Salivary Microbiota Diversity According to Ethnicity, Sex, TRPV1 Variants and Sensitivity to Capsaicin.

The salivary microbiota of Italian and sub-Saharan African individuals was investigated using Nanopore sequencing technology (ONT: Oxford Nanopore Technologies). We detected variations in community composition in relation to endogenous (ethnicity, sex, and diplotypic variants of the TRPV1 gene) and exogenous (sensitivity to capsaicin) factors. The results showed that Prevotella, Haemophilus, Neisseria, Streptococcus, Veillonella, and Rothia are the most abundant genera, in accordance with the literature. However, alpha diversity and frequency spectra differed significantly between DNA pools. The microbiota in African, male TRPV1 bb/ab diplotype and capsaicin low-sensitive DNA pools was more diverse than Italian, female TRPV1 aa diplotype and capsaicin high-sensitive DNA pools. Relative abundance differed at the phylum, genus, and species level.

A new sociology of humans and machines.

From fake social media accounts and generative artificial intelligence chatbots to trading algorithms and self-driving vehicles, robots, bots and algorithms are proliferating and permeating our communication channels, social interactions, economic transactions and transportation arteries. Networks of multiple interdependent and interacting humans and intelligent machines constitute complex social systems for which the collective outcomes cannot be deduced from either human or machine behaviour alone. Under this paradigm, we review recent research and identify general dynamics and patterns in situations of competition, coordination, cooperation, contagion and collective decision-making, with context-rich examples from high-frequency trading markets, a social media platform, an open collaboration community and a discussion forum. To ensure more robust and resilient human-machine communities, we require a new sociology of humans and machines. Researchers should study these communities using complex system methods; engineers should explicitly design artificial intelligence for human-machine and machine-machine interactions; and regulators should govern the ecological diversity and social co-development of humans and machines.

Protein catabolites as blood-based biomarkers of aging physiology: Findings from the Dog Aging Project.

Our understanding of age-related physiology and metabolism has grown through the study of systems biology, including transcriptomics, single-cell analysis, proteomics and metabolomics. Studies in lab organisms in controlled environments, while powerful and complex, fall short of capturing the breadth of genetic and environmental variation in nature. Thus, there is now a major effort in geroscience to identify aging biomarkers and to develop aging interventions that might be applied across the diversity of humans and other free-living species. To meet this challenge, the Dog Aging Project (DAP) is designed to identify cross-sectional and longitudinal patterns of aging in complex systems, and how these are shaped by the diversity of genetic and environmental variation among companion dogs. Here we surveyed the plasma metabolome from the first year of sampling of the Precision Cohort of the DAP. By incorporating extensive metadata and whole genome sequencing information, we were able to overcome the limitations inherent in breed-based estimates of genetic and physiological effects, and to probe the physiological and dietary basis of the age-related metabolome. We identified a significant effect of age on approximately 40% of measured metabolites. Among other insights, we discovered a potentially novel biomarker of age in the post-translationally modified amino acids (ptmAAs). The ptmAAs, which can only be generated by protein hydrolysis, covaried both with age and with other biomarkers of amino acid metabolism, and in a way that was robust to diet. Clinical measures of kidney function mediated about half of the higher ptmAA levels in older dogs. This work identifies ptmAAs as robust indicators of age in dogs, and points to kidney function as a physiological mediator of age-associated variation in the plasma metabolome.

Leadership Strategies for Managing Human and Technological Diversity in the Industrial 5.0 Era: A Systematic Review

The problem formulation that arises from this research is how the efforts made by leaders in the industrial era 5.0 overcome problems related to the process of managing HR diversity and technological changes in increasing business innovation in order to increase business productivity and business sustainability, so that they can survive the changes that exist. This research focuses on discussing the efforts of leaders to overcome the problems of the process of managing HR diversity and technological changes in the 5.0 era in order to increase business innovation to increase business productivity and business sustainability. The results of the data analysis used used descriptive qualitative analysis using literature studies through systematic literature review. The research method uses a quantitative descriptive method of data analysis using the structural equation model (SEM) method, where the results of data processing with the SEM method are carried out with the PLS application. From the results of the study, it is concluded that the 5.0 leadership efforts in overcoming the management of HR diversity in increasing business innovation, namely building an inclusive culture, recognizing and appreciating diverse contributions, empowering employees, building intercultural skills, supporting inclusive research and development, using technology that supports engagement and collaboration and diversity-oriented monitoring and evaluation. The results concluded that the 5.0 leadership efforts in overcoming technology management in increasing business innovation, namely a deep understanding of technology, creating an environment that supports technological innovation, focusing on employee engagement and skills, partnering with technology experts, using technology for collaboration and communication, encouraging a culture of experimentation and learning, continuous review of processes and practices and recognition and reward for innovative contributions. Along with managing the diversity of human resources and technology in increasing business innovation, it can create more creativity and make leaders have to follow the direction and be able to adapt to changes so that the company can improve its performance and can continue to run its business optimally and be able to meet consumer needs properly.

AI for chemistry teaching: responsible AI and ethical considerations

Abstract This paper discusses the ethical considerations surrounding generative artificial intelligence (GenAI) in chemistry education, aiming to guide teachers toward responsible AI integration. GenAI, driven by advanced AI models like Large Language Models, has shown substantial potential in generating educational content. However, this technology’s rapid rise has brought forth ethical concerns regarding general and educational use that require careful attention from educators. The UNESCO framework on GenAI in education provides a comprehensive guide to controversies around generative AI and ethical educational considerations, emphasizing human agency, inclusion, equity, and cultural diversity. Ethical issues include digital poverty, lack of national regulatory adaptation, use of content without consent, unexplainable models used to generate outputs, AI-generated content polluting the internet, lack of understanding of the real world, reducing diversity of opinions, and further marginalizing already marginalized voices and generating deep fakes. The paper delves into these eight controversies, presenting relevant examples from chemistry education to stress the need to evaluate AI-generated content critically. The paper emphasizes the importance of relating these considerations to chemistry teachers’ content and pedagogical knowledge and argues that responsible AI usage in education must integrate these insights to prevent the propagation of biases and inaccuracies. The conclusion stresses the necessity for comprehensive teacher training to effectively and ethically employ GenAI in educational practices.

AncestryGrapher toolkit: Python command-line pipelines to visualize global- and local- ancestry inferences from the RFMIX version 2 software.

Admixture is a fundamental process that has shaped levels and patterns of genetic variation in human populations. RFMIX version 2 (RFMIX2) utilizes a robust modeling approach to identify the genetic ancestries in admixed populations. However, this software does not have a built-in method to visually summarize the results of analyses. Here, we introduce the AncestryGrapher toolkit, which converts the numerical output of RFMIX2 into graphical representations of global and local ancestry (i.e., the per-individual ancestry components and the genetic ancestry along chromosomes, respectively). To demonstrate the utility of our methods, we applied the AncestryGrapher toolkit to visualize the global and local ancestry of individuals in the North African Mozabite Berber population from the Human Genome Diversity Panel (HGDP). Our results showed that the Mozabite Berbers derived their ancestry from the Middle East, Europe, and sub-Saharan Africa (global ancestry). We also found that the population origin of ancestry varied considerably along chromosomes (local ancestry). For example, we observed variance in local ancestry in the genomic region on chromosome 2 containing the regulatory sequence in the MCM6 gene associated with lactase persistence (LP), a human adaptive trait tied to the cultural development of adult milk consumption. Overall, the AncestryGrapher toolkit facilitates the exploration, interpretation, and reporting of ancestry patterns in human populations. The AncestryGrapher toolkit is free and open source on https://github.com/alisi1989/RFmix2-Pipeline-to-plot. Supplementary data are available at Bioinformatics online.

Semisynthetic Phage Display Library Construction: Design and Synthesis of Diversified Single-Chain Variable Fragments and Generation of Primary Libraries.

Display of antibody fragments on the surface of M13 filamentous bacteriophages is a well-established approach for the identification of antibodies binding to a target of interest. Here, we describe the first of a three-step method to construct Antibody Libraries for Therapeutic Antibody Discovery (ALTHEA) Libraries. The three-step method involves (1) primary library (PL) construction, (2) filtered library construction, and (3) secondary library construction. The first step, described here, entails design, synthesis, and cloning of four PLs. These PLs are designed with specific properties amenable to therapeutic antibody development using one universal variable heavy (VH) scaffold and four distinct variable light (VL) scaffolds. The scaffolds are diversified in positions that bind both protein and peptide targets identified in antibody-antigen complexes of known structure using the amino acid frequencies found in those positions in known human antibody sequences, avoiding residues that may lead to developability liabilities. The diversified scaffolds are combined with 90 synthetic neutral HCDR3 sequences designed with developable human diversity genes (IGHD) and joining heavy genes (IGHJ) in germline configuration, and assembled as single-chain variable fragments (scFvs) in a VL-linker-VH orientation. The four designed PLs are synthesized using trinucleotide phosphoramidites (TRIMs) and cloned independently into a phagemid vector for M13 pIII display. Quality control of the cloning of the four PLs is also described, which involves sequencing scFvs in each library.

High-risk human papillomavirus diversity among indigenous women of western Botswana with normal cervical cytology and dysplasia

BackgroundCervical cancer remains a public health problem despite heavy global investment in health systems especially in low-and-middle-income countries (LMIC). Prophylactic vaccines against the most commonly detected human papillomavirus (HPV) types in cervical cancers are available and decisions on the selection of vaccine design depends on the prevalence of high-risk (hr) HPV genotypes for a particular region. In 2015, Botswana adopted the use of a quadrivalent HPV vaccine as a primary prevention strategy. Secondary prevention includes cervical smear screening whose uptake remains notably low among indigenous and marginalized communities despite efforts to improve access.AimTo determine the prevalence of hrHPV genotypes and cervical lesions’ burden in women from the indigenous and marginalized communities of Botswana.MethodsThis prospective survey enrolled 171 non-HPV vaccinated women aged 21 years and older. Face-to-face interviews, Pap smear screening, hr-HPV and Human Immuno-deficiency virus (HIV) testing were carried out. Conventional Papanicolau smears were analyzed and cervical brushes were preserved for hrHPV testing using the Ampfire Multiplex HR-HPV protocol which detects the following genotypes: HPV 16, 18, 31, 35, 39, 45, 51, 52, 53, 56, 58, 59 and 68.ResultsIn this study, 168/171 (98.6%) of the women consented to HIV testing; 53/171 (31%) were living with HIV and self-reported enrolment on antiretroviral therapy. Among the women examined, 23/171 (13.5%) had cervical dysplasia with most presenting with Atypical Squamous Cells of Undetermined Significance 8/23 (35%), Low-Grade Squamous Intraepithelial Lesions 8/23 (35%), Atypical Squamous Cells-High Grade 4/23 (17%), Atypical Endocervical Cells 2/23 (9%) and Atypical Endocervical Cell favoring neoplasia 1/23(4%). However, no High-Grade Squamous Intraepithelial Lesions (HSIL) or squamous cell carcinoma (SCC) were detected. Overall hrHPV prevalence in this study was at 56/171 (32.7%). The most commonly detected hrHPV genotypes in women with cervical dysplasia were HPV39 (6.25%), HPV51 (14.5%), HPV52 (12.5%) and HPV56 (4%). Notably, HPV 16 and 18 were not found in women with cervical dysplasia.ConclusionsOur study provides valuable insights into the prevalence and distribution of hrHPV genotypes in indigenous and marginalized communities in Botswana, and the need for further investigation of their potential role in cervical carcinogenesis in this population. These results may also serve as baseline data to facilitate future evaluation of the HPV vaccine needs.

Contextualizing Human Rights in Multicultural Environments

This paper explores the intricate relationship between socio-cultural dynamics and human rights in multicultural societies. It examines how norms, belief systems, and power structures shape the perception and exercise of these universal principles. The study employs a qualitative research design, specifically using the Cultural Relativism Framework, to investigate how cultural norms and values influence the interpretation and application of human rights. Through the analysis of literature and case studies, the paper elucidates the interaction between cultural context and human rights interpretations. It acknowledges that human rights are not uniform but are influenced by diverse cultural contexts. Key findings underscore the significance of multiculturalism in human rights interpretation, the impact of social, cultural, and political contexts, the intersection of values, beliefs, and customs, and the roles of states, civil society, and international organizations in shaping human rights discourse. The paper advocates for educational initiatives, intercultural dialogue, inclusive policymaking, and legal reforms to promote and protect human rights in diverse societies. It recommends enhancing human rights education, facilitating intercultural exchange, empowering civil society, addressing discrimination and inequality, and integrating customary laws with formal legal systems. By fostering mutual respect and understanding, societies can uphold human rights and cultural diversity, enabling peaceful, equitable coexistence. This assertion is based on empirical observations and scientific principles that highlight the importance of mutual understanding in preserving human rights and promoting cultural diversity. This paper contributes to a deeper understanding of human rights, advocating for a balance between universal principles and cultural specificities.

AUTISTIC SPECTRUM DISORDER

This article is part of the conclusion of the Postgraduate Course in Special Education from Favimo University. It focuses on discussing some educational proposals aimed at students with Autistic Spectrum Disorder (ASD), which are inserted in the regular school classrooms. It is the classroom teacher who will mediate the whole of the inclusive process, he is the one who promotes the child's initial contact with other children in the class and is responsible for including him in everyday activities. In this perspective, this theme reaffirms the need that everyone understands and accepts human diversity, and can contribute to the construction of a fairer and more egalitarian society. The article will be divided into three great moments. In the first one will be made a global contextualization of special education. Then the autistic spectrum disorder will be presented- Tea its main characteristics and needs. Finally, some pedagogical proposals that can be used in the classroom will be presented. It is concluded that a lot has changed since the beginning of history when we talk about people with ASD. Of schizophrenics there are numerous distinct characteristics even in the same disorder. Of communication difficulty to high skills. Autism is one of the syndromes as the largest variants of behavior, without modeled patterns.

Tradeoffs and synergies between social equity and environmental benefits in conservation

Conservation programs worldwide pursue social equity alongside environmental benefits and economic efficiency. When the spatial patterning of human diversity differs from the patterning of biological diversity, conservation planners face complex tradeoffs between social and biological objectives. Here, we quantify how these tradeoffs depend on the correlation between the spatial distributions of social and biological diversity. We used empirical patterns in the commonness and rarity of species to generate simulated landscapes with pre-defined correlations between biological diversity and human social diversity. Our analysis shows how tradeoffs between social equity and environmental benefits are unavoidable when human and biological diversity are negatively correlated. However, when human and biological diversity are strongly positively correlated, then biological and social priorities are congruent. In these settings, well-designed conservation programs may engender positive feedbacks between social equity and ecosystem services, enhancing both. Our analysis focused on distributional equity, but similar dynamics are likely to occur with procedural, recognitional and contextual equity. Given growing evidence that socially equitable conservation programs are more likely to be successful, our findings underscore the importance of carefully assessing the potential for conflicts and synergies between the social and biological goals of conservation programs.

Mosquito bloodmeals can be used to determine vertebrate diversity, host preference, and pathogen exposure in humans and wildlife

The surveillance and detection of zoonotic pathogens in animals is essential for predicting disease transmission pathways and the risks of spillover, but challenges include the costs, ethics and technical expertise required for vertebrate trapping, serum sampling and antibody or virus screening. Surveillance using haematophagous arthropods as a sampling tool offers a unique opportunity to obtain blood samples from a wide range of vertebrate species, allowing the study of host-mosquito associations, and host exposure to pathogens. We explored vertebrate diversity and potential Ross River virus (RRV) transmission pathways by analysing blood-fed mosquitoes collected in Brisbane, Australia. Host origins were identified using barcode sequencing, and host exposure to RRV was assessed using a modified plaque reduction neutralisation test. In total, 480 blood-fed mosquitoes were collected between February 2021 and May 2022. The host origins of 346 (72%) bloodmeals were identified, with humans (73%) and cattle (9%) comprising the dominant hosts. RRV seroprevalence was high in both vertebrate species with evidence of RRV exposure in 70% (21/30) of cattle and 52% (132/253) of humans. This is a novel, non-invasive method of estimating seroprevalence in vertebrate host populations. Our results highlight the potential of blood-fed mosquitoes to provide species-specific insights into pathogen transmission dynamics.

A genotype imputation reference panel specific for native Southeast Asian populations.

We report the development of a "Southeast Asian Specific (SEA-specific) Reference Panel" through a "Cross-panel Imputation" approach, consisting of 2550 samples derived from the GA100K, SG10K, and the Peninsular Malaysia Orang Asli (OA) datasets, covering 113,851,450 variants. The SEA-specific panel produced more high confidence variants than 1000 Genomes Project (1KGP) when imputing the OA (8.9 million SEA-specific vs 8.1 million 1KGP) and the Singapore Genome Variation Project (SGVP) (12.5 million SEA-specific vs 11.8 million 1KGP) genotyping datasets. Further, the SEA-specific panel imputed SNPs with better estimated quality scores (INFO, DR2 and R2) on the OA genotyping dataset when comparing with TOPMED and the Human Genome Diversity Project, but performed similarly on SGVP dataset. This panel also exhibited higher recall and non-reference disconcordance rates, indicating the influence of ancestry closeness of the reference panel. However, we note that the imputation accuracy may be compromised by the size of the reference panel.