{"database":"EVA","file_versions":[{"headers":{"Content-Type":["application/json"]},"body":{"files":{"Vcf":["ftp://ftp.ebi.ac.uk/pub/databases/eva/PRJEB89856/CyGenome_Whole_Exome_VCF_4.3_02052025.vcf.gz.csi","ftp://ftp.ebi.ac.uk/pub/databases/eva/PRJEB89856/CyGenome_Whole_Exome_VCF_4.3_02052025.vcf.gz"],"Other":["ftp://ftp.ebi.ac.uk/pub/databases/eva/PRJEB89856/CyGenome_Whole_Exome_VCF_4.3_02052025.vcf.csi"]},"type":"primary"},"statusCode":"OK","statusCodeValue":200}],"scores":null,"additional":{"dataset_type":["Exome Sequencing"],"omics_type":["Genomics"],"submitter":["Karaiskakio Foundation"],"instrument_platform":["Illumina"],"species":["Homo Sapiens"],"full_dataset_link":["https://www.ebi.ac.uk/eva/?eva-study=PRJEB89856"],"repository":["EVA"],"description_synonyms":["scale tissue, Materials, Activity, methionine aminopeptidase activity, Laboratory, Addresses, Mbp1, Measure, Pool, Cost-Minimization, Out-Migration, Long Term, School-Age, Personal, Techniques, Emigration, Method, Q1 spectrum, medulla ossea, Immigrations, 2, Crossings, Analysis, Research Activity, Gpi-1, myd, Cost Comparison, Effect, Laboratory Research, peptidase M activity, Turnaround, Psychological, Priorities, adenomas, rabGAPLP, thymus nucleic acid, L-methionine aminopeptidase activity, Man (Taxonomy), Border Crossing, Genomes, In-Migrations, Analyses, Labor, Nlk, plant peltate hair, Cost-Minimization Analyses, Tissue, Mbp-1, RabGAP-5, Comparison, procedures, In-Migration, Q3 spectrum, Red Marrow, genetic, Social, allergic reaction, Cost Analysis, Methodological Studies, RUSC3, Red, Geographic Location, Double-Stranded DNA, Tissue Donor, Social Power, deoxyribonucleic acids, Comparisons, Research Priority, DNAn, Affordabilities, Long-Term Effects, Power, NK/GPI, Gpi, Transplant Donor, gyltl1b-b, statistics and numerical data, Modern, Border Crossings, Transplant, familial, MYH-associated polyposis, Longterm Effect, autosomal recessive familial adenomatous polyposis, Semen Donors, Maps, Research Priorities, Diversities, Confidence, Psychological Powers, Double-Stranded, Procedure, (Deoxyribonucleotide)n+m, Menstruation, mOC-X, MDDGA6, School Age, mKIAA0609, numerical data, Genetic Materials, Donors, NK|GPI, Settlement and Resettlement, Immigration, KIAA0609, desoxyribose nucleic acid, finances, Genetic Material, Border, autosomal recessive, Research and Development, fg, Populations, RUTBC3, Single-Stage Mass Spectrometry, Org, ORG, gyltl1b, Chain Migration, medulla of bone, mdc1d, expanded, Temporary Migrations, salaries, Gpi1-r, Gpi1-s, INSDC_feature:gene, whole genome, Methodological, Genetic Diversity, geographic region {alternative name}, Gpi1-t, Methodological Study, human, Semen Donor, International, RABGAP5, Activities, MDC1D, Return, Out-Migrations, Semen, Health, Migrations, enr, enlarged, Specificity and Sensitivity, Material, ds DNA, multiple colorectal, Cistron, inherited genetic, Confidence Interval, School-Age Population, DNA, financial management, Powers, Ovum, Ovum Donors, Organ Donors, Bone, Bglap-rs1, humans, Cost Analyses, Gpi1s, Chain Migrations, big, Psychological Power, whole exome, Migration, human being, DNS, Procedures, (Deoxyribonucleotide)n, Health Resource, Professional Power, Effects, AI461847, full spectrum, peltate hair, Immigration and Emigration, Gene, Cost Comparisons, froggy, Deoxyribonucleic acids, Gyltl1a, Human, large, method, Gene Pools, Homo sapiens, Deoxyribonucleic Acid, Cost Minimization Analysis, utilization, Out Migration, sensitive, Pools, Marrow, method used in an experiment, Return Migrations, Studies, Pgi, Yellow, Man, Technique, Resources, sensitivity, Return Migration, familial adenomatous polyposis, MAP, Interval, Intervals, Chain, study, School-Age Populations, WES, Diversity, Genetic, Longterm, Research, Cost Measures, Gpi-1r, MDDGB6, Gpi-1s, Temporary Migration, Affordability, familial adenomatous polyposis 2, In Migration, Phi, Gpi-1t, Double Stranded, Measures, LARGE, Deoxyribonucleic acid, financing, Long-Term, Population, Research Activities., Emigrations, Transplant Donors, autosomal recessive multiple colorectal adenomas, Study, BPFD#36, funding, great, Sensitivity, Long-Term Effect, (Deoxyribonucleotide)m, Development and Research, Ovum Donor, School Age Population, constitutitional genetic, International Migrations, Variation, Organ, Genetic Variations, fees, use, Variations, Resettlement and Settlement, MUTYH-Associated Polyposis, Turnaround Migrations, DNAn+1, Labor Migration, MF, Cistrons, Amf, International Migration, read, Priority, Resource, Labor Migrations, medulla ossium, Period, Crossing, Long Term Effects, Genetic Diversities, Research Activities, Population Study, Professional, Donor, techniques, scales, ds-DNA, Data Base, NK, Costs and Cost Analyses, Costs, Yellow Marrow, scale, Organ Donor, medullary bone, Turnaround Migration, Cost, Specificity, Cost-Minimization Analysis, Pricing, MYH-Associated Polyposis, School Age Populations, Longterm Effects, plan specification, cost, Personal Power, Modern Man, Power (Psychology), Desoxyribonukleinsaeure, Temporary, MAP syndrome, Cost Measure, hereditary, FAP2, methodology, colorectal adenomatous polyposis"],"name_synonyms":["genetic, School-Age Populations, Populations, School-Age, School Age, familial, inherited genetic, School-Age Population, School Age Population, whole genome, constitutitional genetic, Population, hereditary, School Age Populations, Genomes."],"additional_accession":[]},"is_claimable":false,"name":"Genetic characterization of variants and population inference through multiple independent pool-seq: The Cyprus Genome Project","description":"The Cyprus Genome project, the first large-scale study of human genetic variation in Cyprus, addresses the island’s complex genetic makeup resulting from its unique geographic location and historical immigration. This intricate genetic heritage, combined with the limitations of existing genetic data in representing the full spectrum of population-level diversity in Cyprus, necessitates a more comprehensive approach to studying the Cypriot gene pool. Here, we present a genetically diverse population study which demonstrates the power of pool-sequencing (pool-seq methodology) using DNA from 10,000 randomly selected healthy bone marrow donors collected over a period of several years.  This study highlights the use of pool-seq as a viable way to elucidate both rare and common variants specific to the population which is also a proven, cost-effective and time-efficient method. DNA samples were pooled for whole exome and gene panel sequencing enabling statistical analysis of variant frequencies and read numbers between pools, resulting in confidence intervals. The resulting variant database was validated across established resources like gnomAD and published Cypriot clinical research cohort data, ensuring fidelity. Enhanced sensitivity in (rare) variant detection was achieved by combining WES and gene panel sequencing to maximise read depth.  The results, including an interactive genome map with annotations from gnomAD and ClinVar, are publicly accessible at www.cyprusgenome.org, facilitating clinical research.","dates":{"publication":"2025-05-26"},"accession":"PRJEB89856","cross_references":{"TAXONOMY":["9606"]}}