A5007411619- Forensic and Genetic Research
- Genomics and Rare Diseases
- Genomics and Phylogenetic Studies
- Genetic diversity and population structure
- Race, Genetics, and Society
- Genetic Associations and Epidemiology
- Forensic Anthropology and Bioarchaeology Studies
- Molecular Biology Techniques and Applications
- Ethics in Clinical Research
- Genomic variations and chromosomal abnormalities
- Liver Diseases and Immunity
- Liver Disease Diagnosis and Treatment
- Prenatal Screening and Diagnostics
- RNA modifications and cancer
- BRCA gene mutations in cancer
- Bioinformatics and Genomic Networks
- Virology and Viral Diseases
- High Altitude and Hypoxia
- Chromosomal and Genetic Variations
- Yersinia bacterium, plague, ectoparasites research
- Epigenetics and DNA Methylation
- Identification and Quantification in Food
- interferon and immune responses
- Machine Learning in Bioinformatics
- Connective tissue disorders research
Mohammed Bin Rashid University of Medicine and Health Sciences
2023-2025
Wellcome Sanger Institute
2012-2022
Ministry of Environment
2012
Genomes from around the globe Genomic sequencing of diverse human populations to understand overall genetic diversity has lagged behind in-depth examination specific populations. To add our understanding diversity, Bergström et al. generated whole-genome sequences surveying individuals in Human Genome Diversity Project, which is a panel global that been instrumental history The authors' study adds data about African, Oceanian, and Amerindian indicates tends result differences at...
Analyzing genomic data across populations is central to understanding the role of genetic factors in health and disease. Successful sharing relies on public support, which requires attention whether people around world are willing donate their that then subsequently shared with others for research. However, studies such perceptions geographically limited do not enable comparison. This paper presents results from a very large survey attitudes toward sharing. Data 36,268 individuals 22...
Structural variants contribute substantially to genetic diversity and are important evolutionarily medically, but they still understudied. Here we present a comprehensive analysis of structural variation in the Human Genome Diversity panel, high-coverage dataset 911 samples from 54 diverse worldwide populations. We identify, total, 126,018 variants, 78% which were not identified previous global sequencing projects. Some reach high frequency private continental groups or even individual...
Abstract Background Public trust is central to the collection of genomic and health data sustainability research. To merit trust, those involved in collecting sharing need demonstrate they are trustworthy. However, it unclear what measures most likely this. Methods We analyse ‘Your DNA, Your Say’ online survey public perspectives on including responses from 36,268 individuals across 22 low-, middle- high-income countries, gathered 15 languages. examine how participants perceived relative...
With ongoing improvements in the detection of complex genomic and epigenomic variations, long-read sequencing (LRS) technologies could serve as a unified platform for clinical genetic testing, particularly rare disease settings, where nearly half patients remain undiagnosed using existing technologies. Here, we report simplified funnel-down filtration strategy aimed at enhancing identification small large deleterious variants well abnormal episignature profiles from whole-genome LRS data....
The Middle East region is important to understand human evolution and migrations but underrepresented in genomic studies. Here, we generated 137 high-coverage physically phased genome sequences from eight Eastern populations using linked-read sequencing. We found no genetic traces of early expansions out-of-Africa present-day Arabians have elevated Basal Eurasian ancestry that dilutes their Neanderthal ancestry. Population sizes within the started diverging 15-20 kya, when Levantines...
Abstract Genome sequences from diverse human groups are needed to understand the structure of genetic variation in our species and history of, relationships between, different populations. We present 929 high-coverage genome 54 populations, 26 which physically phased using linked-read sequencing. Analyses these genomes reveal an excess previously undocumented private southern central Africa Oceania Americas, but absence fixed, variants between major geographical regions. also find deep...
The Iron and Classical Ages in the Near East were marked by population expansions carrying cultural transformations that shaped human history, but genetic impact of these events on people who lived through them is little-known. Here, we sequenced whole genomes 19 individuals each during one four time periods between 800 BCE 200 CE Beirut Eastern Mediterranean coast at center ancient world's great civilizations. We combined data with published to traverse eight archaeological observed any...
The harsh climate of Arabia has posed challenges in generating ancient DNA from the region, hindering direct examination genomes for understanding demographic processes that shaped Arabian populations. In this study, we report whole-genome sequence data obtained four Tylos-period individuals Bahrain. Their genetic ancestry can be modeled as a mixture sources Anatolia, Levant, and Iran/Caucasus, with variation between suggesting population heterogeneity Bahrain before onset Islam. We identify...
Pangenomes represent a significant shift from relying on single reference sequence to robust set of assemblies. Arab populations remain significantly underrepresented; hence, we present the first Pangenome Reference (APR) utilizing 53 individuals diverse ethnicities. We assembled nuclear and mitochondrial pangenomes using 35.27X high-fidelity long reads, 54.22X ultralong reads 65.46X Hi-C yielded contiguous haplotype-phased de novo assemblies exceptional quality, with an average N50 124.28...
Summary Pangenomes represent a significant shift from relying on single reference sequence to robust set of assemblies, Arab populations remain significantly underrepresented; hence, we present the first Pangenome Reference (APR) utilizing 53 individuals diverse ethnicities. We assembled nuclear and mitochondrial pangenomes using 35.27X high-fidelity long reads, 54.22X ultralong reads 65.46X Hi-C yielded contiguous haplotype-phased de novo assemblies exceptional quality, with an average N50...
The genomic representation of populations across the globe is critical to ensuring a comprehensive and equitable human reference. Constructing pangenome graph reference for different best approach addressing local diversities. Although major initiatives continents are underway construct references, field lacks necessary toolsets tertiary analysis characterize telomere-to-telomere (T2T) assemblies complexity haplotypes. PanScan bioinformatics software package developed analysis. It includes...
The aim of this study was to determine how attitudes toward the return genomic research results vary internationally.We analyzed "Your DNA, Your Say" online survey public perspectives on data sharing including responses from 36,268 individuals across 22 low-, middle-, and high-income countries, these were gathered in 15 languages. We participants responded when asked whether (RoR) would motivate their decision donate DNA or health data. examined variation countries compared other with those...
Primary Biliary Cholangitis (PBC) is a chronic autoimmune liver disease characterised by progressive destruction of intrahepatic bile ducts. The strongest genetic association with HLA-DQA1*04:01, but at least three additional independent HLA haplotypes contribute to susceptibility. We used dense single nucleotide polymorphism (SNP) data in 2861 PBC cases and 8514 controls impute classical alleles amino acid polymorphisms using state-of-the-art methodologies. then demonstrated through...
The massive destruction and deterioration of the habitat Oryx leucoryx illegal hunting have decimated populations significantly, now these animals are almost extinct in wild.Molecular analyses can significantly contribute to captive breeding reintroduction strategies for conservation this endangered animal.A representative 32 identical sequences used species identification through BOLD GenBank/NCBI showed maximum homology 96.06% with O. dammah, which is a from Northern Africa, next closest...
Abstract The Middle East is an important region to understand human evolution and migrations, but underrepresented in genetic studies. We generated analysed 137 high-coverage physically-phased genome sequences from eight Eastern populations using linked-read sequencing. found no traces of early expansions out-of-Africa present-day populations, find Arabians have elevated Basal Eurasian ancestry that dilutes their Neanderthal ancestry. A divergence population size within the starts before...
Abstract The harsh climate of Arabia has posed challenges in generating ancient DNA from the region, hindering direct examination genomes for understanding demographic processes that shaped Arabian populations. In this study, we report whole genome sequence data obtained four Tylos-period individuals Bahrain. Their genetic ancestry can be modelled as a mixture sources Anatolia, Levant and Iran/Caucasus, with variation between suggesting population heterogeneity Bahrain before onset Islam. We...
<title>Abstract</title> Background Genetic variation underlying rare diseases in Arab populations is poorly understood, limiting effective carrier screening for recessive disorders which are prevalent due to high consanguineous rates. Methods Using the ACMG/AMP guidelines, we curated pathogenic and likely variants 1,333 Emirati families (346 internal cohort 987 from literature). We also analyzed coding 1,194 exomes, calculated allele frequencies, estimated rates associated conditions....
High-altitude environments pose substantial challenges for human survival and reproduction, attracting considerable attention to the demographic adaptive histories of high-altitude populations. Previous work focused mainly on Tibetans, establishing their genetic relatedness East Asians adaptation high altitude, especially at EPAS1. Here, we present 87 new whole-genome sequences from 16 Himalayan populations insight they provide into genomic history region. We show that population structure...
Abstract Structural variants contribute substantially to genetic diversity and are important evolutionarily medically, yet still understudied. Here, we present a comprehensive analysis of deletions, duplications, insertions, inversions non-reference unique insertions in the Human Genome Diversity Project (HGDP-CEPH) panel, high-coverage dataset 911 samples from 54 diverse worldwide populations. We identify total 126,018 structural (25,588 <100 bp size), which 78% novel. Some reach high...