George B. J. Busby
A5088566598- Forensic and Genetic Research
- Genetic Associations and Epidemiology
- Genetic diversity and population structure
- Race, Genetics, and Society
- Malaria Research and Control
- BRCA gene mutations in cancer
- Hemoglobinopathies and Related Disorders
- Nutrition, Genetics, and Disease
- Complement system in diseases
- Genomics and Phylogenetic Studies
- Mosquito-borne diseases and control
- Cardiovascular Function and Risk Factors
- Health Systems, Economic Evaluations, Quality of Life
- Forensic Anthropology and Bioarchaeology Studies
- Iron Metabolism and Disorders
- Blood Pressure and Hypertension Studies
- Aquaculture disease management and microbiota
- Genomics and Rare Diseases
- Genetic factors in colorectal cancer
- Wildlife Ecology and Conservation
- HIV Research and Treatment
- Archaeology and ancient environmental studies
- Liver Disease Diagnosis and Treatment
- Atherosclerosis and Cardiovascular Diseases
- Demographic Trends and Gender Preferences
Centre for Human Genetics
2013-2024
University of Oxford
2014-2024
Wilmington University
2022
Open Data Institute
2022
Genomics (United Kingdom)
2020-2021
Health Data Research UK
2019-2020
Zoological Society of London
2009-2015
Evidence of human migrations over the past 4000 years is identified in existing genomes.
The malaria parasite Plasmodium falciparum invades human red blood cells by a series of interactions between host and surface proteins. By analyzing genome sequence data from populations, including 1269 individuals sub-Saharan Africa, we identify diverse array large copy-number variants affecting the invasion receptor genes GYPA GYPB We find that nearby association with severe is explained complex structural rearrangement involving loss gain two GYPB-A hybrid genes, which encode...
Abstract The human genetic factors that affect resistance to infectious disease are poorly understood. Here we report a genome-wide association study in 17,000 severe malaria cases and population controls from 11 countries, informed by sequencing of family trios direct typing candidate loci an additional 15,000 samples. We identify five replicable associations with levels evidence including newly implicated variant on chromosome 6. Jointly, these variants account for around one-tenth the...
MalariaGEN is a data-sharing network that enables groups around the world to work together on genomic epidemiology of malaria. Here we describe new release curated genome variation data 7,000 Plasmodium falciparum samples from partner studies in 28 malaria-endemic countries. High-quality genotype calls 3 million single nucleotide polymorphisms (SNPs) and short indels were produced using standardised analysis pipeline. Copy number variants associated with drug resistance structural cause...
The first laboratory-confirmed cases of coronavirus disease 2019 (COVID-19), the illness caused by SARS-CoV-2, in Zambia were detected March 2020 (1). Beginning July, number confirmed began to increase rapidly, peaking during July-August, and then declining September October (Figure). After 3 months relatively low case counts, COVID-19 rapidly rising throughout country mid-December. On December 18, 2020, South Africa published genome a SARS-CoV-2 variant strain with several mutations that...
Abstract Genomic surveillance of Plasmodium falciparum malaria can provide policy-relevant information about antimalarial drug resistance, diagnostic test failure, and the evolution vaccine targets. Yet large low complexity genome P. complicates development genomic methods, while resource constraints in endemic regions limit their deployment. Here, we demonstrate an approach for targeted nanopore sequencing from dried blood spots (DBS) that enables cost-effective low-resource settings. We...
Similarity between two individuals in the combination of genetic markers along their chromosomes indicates shared ancestry and can be used to identify historical connections different population groups due admixture. We use a genome-wide, haplotype-based, analysis characterise structure diversity gene-flow collection 48 sub-Saharan African groups. show that coastal populations experienced an influx Eurasian haplotypes over last 7000 years, Eastern Southern Niger-Congo speaking share with...
Abstract The movement of people into the Americas has brought different populations contact, and contemporary American genomes are product a range complex admixture events. Here we apply haplotype-based ancestry identification approach to large set genome-wide SNP data from variety American, European African determine contributions ancestral Americas. Our results provide fine-scale characterization source populations, identify series novel, previously unreported Africa Europe highlight...
Human genetic factors are important determinants of malaria risk. We investigated associations between multiple candidate polymorphisms-many related to the structure or function red blood cells-and risk for severe Plasmodium falciparum and its specific phenotypes, including cerebral malaria, anaemia, respiratory distress.
Background Cardiovascular diseases are the leading cause of death in United States, yet a significant proportion adults at high risk remain undetected by standard screening practices. Polygenic score for coronary artery disease (CAD-PRS) improves precision determining 10-year atherosclerotic cardiovascular but health benefits and care costs associated with CAD-PRS unknown. We examined cost-effectiveness including as risk-enhancing factor pooled cohort equation (PCE)-the disease-versus PCE...
Recently, the debate on origins of major European Y chromosome haplogroup R1b1b2-M269 has reignited, and opinion moved away from Palaeolithic to notion a younger Neolithic spread these chromosomes Near East. Here, we address this by investigating frequency patterns diversity in largest collection yet assembled. Our analysis reveals no geographical trends diversity, contradiction expectation under hypothesis, suggests an alternative explanation for apparent cline recently described. We...
Over the past few years, studies of DNA isolated from human fossils and archaeological remains have generated considerable novel insight into history our species. Several landmark papers described genomes ancient humans across West Eurasia, demonstrating presence large-scale, dynamic population movements over last 10,000 such that ancestry present-day populations is likely to be a mixture several groups [1-7]. While these efforts are bringing details Eurasian prehistory increasing focus,...
<ns3:p>MalariaGEN is a data-sharing network that enables groups around the world to work together on genomic epidemiology of malaria. Here we describe new release curated genome variation data 7,000 <ns3:italic>Plasmodium falciparum</ns3:italic> samples from MalariaGEN partner studies in 28 malaria-endemic countries. High-quality genotype calls 3 million single nucleotide polymorphisms (SNPs) and short indels were produced using standardised analysis pipeline. Copy number variants associated...
We sequenced genomes from a ∼7,000 year old early farmer Stuttgart in Germany, an ∼8,000 hunter-gatherer Luxembourg, and seven hunter-gatherers southern Sweden. analyzed these data together with other ancient 2,345 contemporary humans to show that the great majority of present-day Europeans derive at least three highly differentiated populations: West European Hunter-Gatherers (WHG), who contributed ancestry all but not Near Easterners; Ancient North Eurasians (ANE), were most closely...
The characterization of the structure southern African populations has been subject numerous genetic, medical, linguistic, archaeological, and anthropological investigations. Current diversity in subcontinent is result complex events genetic admixture cultural contact between early inhabitants migrants that arrived region over last 2000 years. Here, we analyze 1856 individuals from 91 populations, comprising novel published genotype data, to characterize ancestry profiles 631 51 populations....
A consensus on Bantu-speaking populations being genetically similar has emerged in the last few years, but demographic scenarios associated with their dispersal are still a matter of debate. The frontier model proposed by archeologists postulates different degrees interaction among incoming agropastoralist and resident foraging groups presence "static" "moving" frontiers. By combining mitochondrial DNA Y chromosome data collected from several southern African populations, we show that...
Clinical implementation of new prediction models requires evaluation their utility in a broad range intended use populations. Here we develop and validate ancestry-specific Polygenic Risk Scores (PRSs) for Coronary Artery Disease (CAD) using 29,389 individuals from diverse cohorts genetic ancestry groups. The CAD PRSs outperform published scores with an average Odds Ratio per Standard Deviation 1.57 (SD = 0.14) identify between 12% 24% high risk. Using this risk factor to reclassify...
Polygenic risk score for coronary artery disease (CAD-PRS) improves precision in assessing the of cardiovascular diseases and is cost-effective preventing a health system may be other settings prevention programs such as workplace programs. Workplaces provide conducitve environment interventions, but cost-effectiveness CAD-PRS setting remains unknown. This study examined integrating program compared to standard without no-workplace program.We developed cohort simulation model project...
Polygenic risk score (PRS) quantifies the cumulative effects of common genetic variants across genome, including both coding and non-coding regions, to predict developing diseases. In cardiovascular medicine, PRS enhances stratification beyond traditional clinical factors, offering a precision medicine approach coronary artery disease (CAD) prevention. This study evaluates predictive performance multi-ancestry framework for assessment using All Us (AoU) short-read whole-genome sequencing...
Contrasting phenotypes arise from similar genomes through a combination of losses, gains, co-option and modifications inherited genomic material. Understanding the molecular basis this phenotypic diversity is fundamental challenge in modern evolutionary biology. Comparisons genes their expression patterns underlying traits closely related species offer an unrivaled opportunity to evaluate extent which material reorganized produce novel traits. Advances methods now allow us dissect machinery...