{"database":"EGA","file_versions":[],"scores":null,"additional":{"omics_type":["Genomics"],"dataset_type":["Illumina HiSeq 2000;"],"full_dataset_link":["https://ega-archive.org/datasets/EGAD00001001029"],"sample_count":["394"],"description":["EGA dataset EGAD00001001029"],"repository":["EGA"],"title":["Dataset for Parkinson's disease target re-sequencing project"],"pubmed_abstract":["Parkinson's disease (PD) can be divided into familial (Mendelian) and sporadic forms. A number of causal genes have been discovered for the Mendelian form, which constitutes 10-20% of the total cases. Genome-wide association studies have successfully uncovered a number of susceptibility loci for sporadic cases but those only explain a small fraction (6-7%) of PD heritability. It has been observed that some genes that confer susceptibility to PD through common risk variants also contain rare causing mutations for the Mendelian forms of the disease. These results suggest a possible functional link between Mendelian and sporadic PD and led us to investigate the role that rare and low-frequency variants could have on the sporadic form. Through a targeting approach, we have resequenced at 49× coverage the exons and regulatory regions of 38 genes (including Mendelian and susceptibility PD genes) in 249 sporadic PD patients and 145 unrelated controls of European origin. Unlike susceptibility genes, Mendelian genes show a clear general enrichment of rare functional variants in PD cases, observed directly as well as with Tajima's D statistic and several collapsing methods. Our findings suggest that rare variation on PD Mendelian genes may have a role in the sporadic forms of the disease."],"pubmed_title":["Mendelian genes for Parkinson's disease contribute to the sporadic forms of the disease."],"pubmed_authors":["Spataro Nino N, Calafell Francesc F, Cervera-Carles Laura L, Casals Ferran F, Pagonabarraga Javier J, Pascual-Sedano Berta B, Campolongo Antònia A, Kulisevsky Jaime J, Lleó Alberto A, Navarro Arcadi A, Clarimón Jordi J, Bosch Elena E"],"name_synonyms":["Vasp, VASP, Data Set., DmelCG15112, ENHANCER OF ATNSI ACTIVITY, MENA, NDPP1, l(2)02029, Enb, enb, ENA, Ena, CG15112, ENA/VASP"],"description_synonyms":["Parkinson's syndrome, Forms, Parkinson's disease, Parkinsons, Primary Parkinsonism, Materials, Genetic, Parkinson disease, Data Set, Parkinson's disease (disorder), Parkinson's disease NOS, Lewy Body, Gene, Paralysis agitans, Primary, Cistrons, Idiopathic PD, Idiopathic Parkinson Disease, Lewy Body Parkinson's Disease, Parkinsonian disorder, Idiopathic Parkinson's Disease, Idiopathic, Parkinson's disease NOS (disorder), Paralysis Agitans, Material, paralysis agitans, Parkinson's Disease, Shaking palsy, Lewy Body Parkinson Disease, Parkinson Disease, Parkinsonism, Genetic Materials, Cistron, Parkinson syndrome, associated, PD., Genetic Material"],"pubmed_title_synonyms":["Parkinson's syndrome, Forms, Parkinson's disease, Parkinsons, other disease, Primary Parkinsonism, human disease, Materials, Genetic, Parkinson disease, Parkinson's disease (disorder), Parkinson's disease NOS, Lewy Body, disorders, Gene, Paralysis agitans, Primary, Cistrons, Idiopathic PD, Idiopathic Parkinson Disease, Lewy Body Parkinson's Disease, Parkinsonian disorder, non-neoplastic, disease, Idiopathic Parkinson's Disease, Idiopathic, Parkinson's disease NOS (disorder), Paralysis Agitans, diseases, Material, paralysis agitans, Parkinson's Disease, Shaking palsy, Lewy Body Parkinson Disease, Diseases, Parkinson Disease, Parkinsonism, disease or disorder, Genetic Materials, condition, disorder, Cistron, diseases and disorders, Homo sapiens disease, medical condition., Parkinson syndrome, PD, Genetic Material"],"pubmed_abstract_synonyms":["Forms, Genome-Wide Association, Parkinson's disease, other disease, Materials, Procedures, Parkinson's disease NOS, Lewy Body, Genome Wide Association Analysis, Whole Genome Association Study, number, Gene, Mini Exon, clefted, Mutations, Relative, Techniques, GWA Studies, Caucasian, Paralysis Agitans, reduced, diseases, Roles, Method, Mini-Exon, Studies, symptoms, disease or disorder, Concepts, diseases and disorders, Low, tiny, Technique, GWA Study, human disease, me75, Occidental, Parkinson disease, Genetic, Parkinson's disease (disorder), occurrence, GWA, prevalence, hypoplasia, procedures, D17Mit170, Idiopathic PD, T1, Genome Wide Association Scan, Genome-Wide Association Studies, genetic, non-neoplastic, Study, Idiopathic, Methodological Studies, Shaking palsy, Clients, Role Concepts, Parkinson Disease, Parkinsonism, disorder, Homo sapiens disease, Parkinson syndrome, constitutitional genetic, incidence, Parkinson's syndrome, small, screening, Parkinsons, Primary Parkinsonism, findings, subdivided, cou, frequency, familial, disorders, white, Paralysis agitans, Primary, medical condition, Procedure, Tl3, Cistrons, Tl2, Genome-Wide, Client, results, Idiopathic Parkinson Disease, Concept, Idiopathic Parkinson's Disease, Lr, Role Concept, Genome Wide Association Study, Parkinson's Disease, Lewy Body Parkinson Disease, European, Relative Risks, Diseases, Role, Genetic Materials, condition, rare (European definition), Whole Genome Association Analysis, techniques, outbreaks, Genetic Material, Caucasoid, forked, Relative Risk, Caucasians, susceptibility, divided, Risk, underdeveloped, Mini-Exons, Risks, Exon, signs, common, Methodological, septate, surveillance, Methodological Study, morbidity, endemics, Genome Wide Association Studies, Lewy Body Parkinson's Disease, Parkinsonian disorder, disease, clear, hyaline, Parkinson's disease NOS (disorder), Patient, paralysis agitans, Material, Whites, cardinality, Bra, Association Studies, Cistron, epidemics, White, medical condition., PD, inherited genetic, Association Study, hereditary, methodology"],"additional_accession":[]},"is_claimable":false,"name":"ena-DATASET-IBE-UPF-09-10-2014-16:01:57:905-205 - samples","description":"The dataset regards the sequencing of coding and putative regulatory sequences of 38 genes associated to either sporadic or Mendelian form of Parkinson's disease","dates":{"updated":"2017-07-26 15:39:25"},"accession":"EGAD00001001029","cross_references":{"TAXONOMY":["9606"],"pubmed":["25504046"],"EGA":["EGAC00001000244","EGAS00001000973"]}}