{"database":"EGA","file_versions":[],"scores":null,"additional":{"omics_type":["Genomics"],"study_type":["Whole Genome Sequencing"],"full_dataset_link":["https://ega-archive.org/studies/EGAS00001005702"],"host":["EGA"],"description":["EGA study EGAS00001005702"],"dataset_title":["Rare Disease Synthetic Dataset"],"repository":["EGA"],"category":["restricted"],"name_synonyms":["Human, Orphan Disease, Orphan, study, SYNTHETIC CONSTRUCT sequences, Disease, Rare, human being, artificial sequence, Man (Taxonomy), Homo sapiens, Modern Man, Modern, Rare Disease., synthetic, artificial, synthetic genetic interaction defined by inequality, artificial gene, synthetic genetic interaction (sensu inequality), synthetic DNA, Man, synthetic constructs, Orphan Diseases, human"],"description_synonyms":["Mitochondrial Disorder, artificial sequence, Disorders, Kinship, Raw, vcfs, AAMD - Age related macular degeneration, VCFS, A4, Genograms, growth and development, Genealogical Tree, Tumor, dgcr, Status, dorv, Phosphorylation Deficiency, Human Haplotype Maps, age related maculopathy, unspecified, Oxidative, DGCR, DORV, TGA, Muscular dystrophy NOS, DGS, Life Cycle, Hereditary progressive muscular dystrophy NOS, Muscular Dystrophies, cancer of the breast, Age related macular degeneration (disorder) [Ambiguous], Mitochondria Dysfunction, BC, gamma sarcoglycan, Kinship Network, Slow-Channel Congenital Myasthenic Syndrome, Genomes, ClinicalHistory, Age-Related Macular, Congenital Myasthenias, Defect, Ach, cancer of breast, GOV, l(3)61Da, Macular degeneration (disorder), RESPIRATORY CHAIN DEFIC MITOCHONDRIAL, Homo sapiens disease, Age-Related, Age-related macular degeneration (disorder), Breast Malignant Neoplasms, arhinia, Age-Related Maculopathies, Tumors, Postsynaptic Congenital Myasthenic Syndromes, International HapMap, Data Set, Maculopathy, gov, Oxidative Phosphorylation Deficiency, Emc, Senile macular degeneration, CG1007, Trees, Parenthood, Congenital, Step-Parents, age related macular degeneration, AGE RELAT MACULOPATHIES, sarcoglycan, Dysfunction, Senile macular retinal degeneration, 0977/09, Carcinomas, platine, familial limb-girdle myasthenia, Postsynaptic Congenital Myasthenic Syndrome, platino, Projects, xtbx1, Parental Age, Parental Ages, Progressive muscular dystrophy, whole genome, Congenital Myasthenic Syndromes, Myodystrophicas, \"mammary neoplasm\" RELATED [], 78Pt, human, Age, International, Presynaptic, Grant, Rare, 0587/01, Haplotype Map, breast cancer, 35kD dystrophin-associated glycoprotein, Oxidative Phosphorylation Deficiencies, Breast Tumors, Breast Malignant Tumors, AMD - Age-related macular degeneration, cancer, Orphan Diseases, Respiratory Chain, Community, Senile macular degeneration of retina, Congenital Myasthenia Gravis, BOSMA arhinia microphthalmia syndrome, Myodystrophy, Mitochondrial Defect, tbx1c, Respiratory Chain Deficiency, Neoplasms, Slow Channel Congenital Myasthenic Syndrome, Mitochondria, Mammary Cancers, cthm, hyperglycaemia, age-related macular degeneration, Human, Breast Malignant Tumor, CTHM, Breast Tumor, Core Genome, disease or disorder, breast tumor, Parenthood Status, Financing, synthetic genetic interaction (sensu inequality), Presynaptic Congenital Myasthenic Syndromes, MAM, gamma-SG, Stepparents, Man, Map, Backgrounds, Orphan Disease, Community Financing, l(3)04322, Myasthenias, Maculopathies, Mammary Neoplasm, MACULOPATHY AGE RELAT, Mammary Carcinoma, Accessory Genome, myasthenia gravis congenital, Muscular Dystrophy, Presynaptic Congenital Myasthenic Syndrome, genomic profiling, Mitochondrial Disease, Platinum Black, mitochondrial disorder, Malignant Tumor of Breast, Grants, Syndrome, Mitochondrial Defects, Genealogical, Dystrophy, Cancer, Breast Carcinoma, Human Mammary Neoplasm, RAD3D, cafs, MACULAR DEGENERATION NOS, Breast Carcinomas, Family Research, 35 kDa dystrophin-associated glycoprotein, Dm0688, disorders, tbx1, bHLHb28, ARMD, AMD, synthetic DNA, Congenital Slow Channel Myasthenic Syndromes, Age-Related Maculopathy, \"breast tumor\" EXACT [NCI2004_11_17:C2910], Pangenome, Haplotype Maps, SGCG, Family Members, Slow-Channel, Mitochondrial Dysfunction, Dystrophies, chemical analysis, Neoplasm, synthetic, Step-Parent, condition, Human Mammary Carcinoma, CAFS, MACULOPATHIES AGE RELAT, Congenital Slow-Channel Myasthenic Syndrome, Col4a-1, DMDA1, postnatal growth, ms(3)61CD, choanal atresia, Cancers, Orphan, HERED PROG MUSC DYSTRPHY, Genealogic Tree, Genealogic Trees, Pan-genome, Deficiency, age related Maculopathies, Families, CATCH22, Cancer of Breast, Gravi, RAB16, Relatives, ELECTRON TRANSPORT CHAIN DEFIC MITOCHONDRIAL, breast, Organized Financing., congenital myasthenia, Networks, MGC130048, malignant tumor of the breast, Bru, HapMap Project, l(3)05592, single-organism developmental process, determination, postnatal development, Postsynaptic, muscular dystrophy, mammary neoplasm, Human Mammary Neoplasms, Congenital Slow Channel Myasthenic Syndrome, Platin, Myasthenia Gravis, Background, Pt, diseases, \"neoplasm of breast (disorder)\" EXACT [SNOMEDCT_2005_07_31:126926005], DmelCG1007, Project, Myodystrophica, Congenital Myasthenic Syndrome, diseases and disorders, Myasthenic Syndrome, BAMS, Family Life Cycle, Macular Dystrophy, Svc, Mammary Neoplasms, malignant neoplasm of breast, Age Related Maculopathies, International HapMap Project, microphthalmia, human disease, Man (Taxonomy), Age related maculopathy, Electron Transport Chain Deficiencies, Unspecified senile macular degeneration, Congenital Myasthenia, mitochondrial disease, Congenital Myasthenic, Human Mammary Carcinomas, International HapMap Projects, mitochondrial disease/disorder, Genogram, Hereditary progressive muscular dystrophy, PMD - Progressive muscular dystrophy, gamma-sarcoglycan, Slow Channel Congenital Myasthenic Syndromes, Family Life Cycles, Congenital Slow-Channel Myasthenic Syndromes, myasthenia gravis pseudoparalytica, mammary cancer, Myasthenia, Carcinoma, \"breast neoplasm\" EXACT [MTH:120], Age Related Macular Degeneration, MITOCHONDRIAL DIS, Phosphorylation Deficiencies, D2-2, Step Parents, Modern, SG-gamma, Mitochondrial Electron Transport Chain Deficiencies, Maps, Stepparent, Myasthenic Syndromes, Mitochondrial Respiratory Chain Deficiencies, NOS, Filiation, Malignant Neoplasm of Breast, Family Tree, ARMD - Age-related macular degeneration, Mitochondrial, Parent, Macular Dystrophies, Macular, gamma (35kDa dystrophin-associated glycoprotein), HapMap Projects, Genealogical Trees, Genetic Identity, Life Cycles, disease, SYNTHETIC CONSTRUCT sequences, DMDA, Oxidative Phosphorylation, Syndromes, Patient, Mitochondria Dysfunctions, artificial, OX PHOS DEFIC, erb-Goldflam syndrome, Muscular, Macular Degeneration, HapMap, other disease, primary breast cancer, Genetic Backgrounds, human being, SGCG_HUMAN, Family Member, Family Trees, Deficiencies, Human Haplotype Map, Network, Bosma arhinia microphthalmia syndrome, Identity, TYPE, DAGA4, Homo sapiens, 35DAG, macular degeneration, Age Related, \"mammary tumor\" EXACT [CSP2005:2016-0671], Del(8)44H, VCF, SCG3, congenital MG, Age-Related Macular Degenerations, Human Mammary, Slow-Channel Congenital Myasthenic Syndromes, Genetic, Research, clinical information, synthetic genetic interaction defined by inequality, MITOCHONDRIAL ELECTRON TRANSPORT CHAIN DEFIC, l(3)j4E11, Cancer of the Breast, non-neoplastic, SMD - Senile macular degeneration, Ages, Mammary, Mammary Cancer, Clients, Disorder, Macular Degenerations, disorder, Congenital muscular dystrophy, Kinship Networks, Breast, Family, mammary tumor, Myodystrophies, Disease, Macular degeneration (senile) of retina, Mitochondrial Diseases, Muscular dystrophy (disorder), Parental, artificial gene, age-related, medical condition, Respiratory Chain Deficiencies, Tree, Client, Identities, LGMD2C, Breast Malignant Neoplasm, development, Human Haplotype, Mammary Carcinomas, Organized Financing, Hereditary progressive muscular dystrophy (disorder), Genealogic, AGE RELAT MACULOPATHY, Rare Disease, Slow Channel, Mitochondrial Dysfunctions, velocardiofacial syndrome, MD - Muscular dystrophy, Breast Neoplasm, 0203/10, Hereditary progressive muscular dystrophy NOS (disorder), Amended, patient, Degeneration, Degenerations, synthetic constructs, Genetic Identities, Mitochondrial Disorders, TBX1C, and hypogonadotropic hypogonadism, Indexes, Modern Man, Breast Cancer, SCARMD2, assay, 0094/26, growth"],"additional_accession":[]},"is_claimable":false,"name":"Human genomic and phenotypic synthetic data for the study of rare diseases","description":"The purpose of this dataset is to facilitate development of technical implementations for rare disease data integration, analysis, discovery,  and federated access.\n\nThis synthetic dataset includes clinical and genomic data from 6 rare disease cases. It consists of 18 whole genomes (6 index cases with their parents) which have genetic background based on public human data sequenced in the context of the Illumina Platinum initiative (Eberle, MA et al. (2017)) and made available by the HapMap project (https://www.genome.gov/10001688/international-hapmap-project). In each of the cases, real causative variants correlating with the phenotypic data provided were spiked-in.\n\nThe cases included in this synthetic dataset correspond to the following type of disorders:\nCASE 1- Congenital myasthenic syndrome (Autosomal Dominant -de novo variant)\nCASE 2- Macular dystrophy (Autosomal Dominant)\nCASE 3- Muscular dystrophy (Autosomal Recessive-compound heterozygous variants)\nCASE 4- Mitochondrial disorder (Autosomal Recessive-consanguineous case - homozygous variant)\nCASE 5- Breast cancer (Autosomal Dominant)\nCASE 6- Similar as case 1 for patient matchmaking tests: Congenital myasthenic syndrome (Autosomal Dominant-de novo variant)\n\nFor each case you will be able to download the following data: clinical information (phenopackets per individual and pedigree per family), raw genomic data (FASTQ and BAMs) and processed genomic data (vcfs).\n\nWhen using the data, the following should be acknowledged: the RD-Connect GPAP (https://platform.rd-connect.eu/), EC H2020 project EJP-RD (grant # 825575), EC H2020 project B1MG (grant # 951724) and Generalitat de Catalunya VEIS project (grant # 001-P-001647).","dates":{"updated":"2022-03-04 18:10:04"},"accession":"EGAS00001005702","cross_references":{"TAXONOMY":["9606"],"EGA":["EGAD00001008392","EGAC00001000514"]}}