{"database":"EGA","file_versions":[],"scores":null,"additional":{"omics_type":["Genomics"],"study_type":["Other"],"full_dataset_link":["https://ega-archive.org/studies/EGAS00001002069"],"host":["EGA"],"description":["EGA study EGAS00001002069"],"dataset_title":["MYOSEQ"],"repository":["EGA"],"category":["restricted"],"name_synonyms":["Project."],"description_synonyms":["Cardiomegalia Glycogenica diffusa, Materials, Activity, Laboratory, acetylglucosaminyltransferase-like protein, Acid Maltase, Acid Alpha-Glucosidase Deficiency, Mbp1, Glycogenosis, GAA Deficiencies, Acid Maltase Deficiencies, generalized, Measure, Cost-Minimization, Juvenile Glycogen Storage Disease Type II, 4-Glucosidase Deficiencies, diseases, Generalized Glycogenosis, Uae1, diseases and disorders, Whole Transcriptome, Transcriptome Sequencing, Analysis, Research Activity, Pompe, myd, GLCNE, Cost Comparison, Glycogen Storage Disease Type II, Laboratory Research, Priorities, increased, human disease, like-acetylglucosaminyltransferase, Analyses, Complete Exome Sequencing, Cost-Minimization Analyses, Whole Transcriptome Sequencing, Mbp-1, GAA deficiency, Comparison, Adult, 4-Glucosidase Deficiency Disease, Cost Analysis, Pathologies, Leyden-Mbius muscular dystrophy, Acid Maltase Deficiency, LGMD, Homo sapiens disease, glycogen storage disease 2, Research Priority, Comparisons, Glycogen storage disease type 2, Affordabilities, Alpha-1, Acid Alpha-Glucosidase, GSD2, IBM2, University., wide/broad, gyltl1b-b, Exome, Acid Maltase Deficiency Disease, Glycogenosis type 2, Research Priorities, Infantile, Pompe's, 4-glucosidase deficiency, Adult Glycogen Storage Disease Type II, glycogen storage disease due to acid maltase deficiency, Glycogenosis due to acid maltase deficiency, GAA, Generalized Glycogenoses, Pompe Disease, MDDGA6, Leyden-Mobius muscular dystrophy, mKIAA0609, Lysosomal alpha-1, DMRV, Glycogenoses, Diseases, GSD II, Genetic Materials, University, Aglucosidase alfa, KIAA0609, acetylglucosaminyltransferase-like 1A, Genetic Material, finances, Research and Development, fg, Glycogen Storage Disease II, Acid, Complete Transcriptome, gyltl1b, limb-girdle muscular dystrophy, mdc1d, glucosidase acid-1, salaries, Alpha 1, INSDC_feature:gene, Deficiency Disease, LARGE_HUMAN, Activities, GSD type 2, Phenotypes, MDC1D, disease, wide, GSD 2, enr, Patient, Material, Pompes Disease, 4-Glucosidase, Whole Exome Sequencing, Cistron, financial management, Transcriptome Sequencings, accessory, 4-alpha deficiency, 4-Glucosidase Deficiency, Cost Analyses, Type IIs, Glycogen Storage Disease Type 2, erb's muscular dystrophy, other disease, Complete Exome, Alpha-Glucosidase Deficiency, Alpha-Glucosidase Deficiencies, Deficiencies, 2310066H07Rik, Gene, Cost Comparisons, broad, LARGE1, supernumerary, froggy, Gyltl1a, Northern Europe, Cost Minimization Analysis, Pompe's Disease, disease or disorder, Glycogenosis 2, Southern Europe, Lysosomal alpha 1, Deficiency of Alpha Glucosidase, deficiency of lysosomal alpha-glucosidase, WES, Complete, Exome Sequencings, Genetic, Infantile Glycogen Storage Disease Type II, Research, Cost Measures, MDDGB6, Affordability, Measures, LARGE, GSD2s, acid maltase deficiency disease, Deficiency of Alpha-Glucosidase, financing, Sequencing, non-neoplastic, BPFD#36, funding, Whole Exome, 4 Glucosidase Deficiency Disease, Clients, Whole, disorder, Development and Research, fees, Disease, Glycogenosis Type II, GAA Deficiency, Complete Exome Sequencings, Generalized, disorders, medical condition, Cistrons, Client, GSD due to acid maltase deficiency, Juvenile, Exome Sequencing, Priority, Research Activities, Western Europe, condition, Cardiac form, glycogenosis, NM, Costs and Cost Analyses, Pompe disease, Costs, 4 Glucosidase Deficiency, Complete Transcriptome Sequencing, limb girdle muscular dystrophy, increased number, Cost, Cost-Minimization Analysis, patient, Pricing, Acid Alpha Glucosidase Deficiency, Maltase Deficiencies, Acid Alpha-Glucosidase Deficiencies, present in greater numbers in organism, deficiency of alpha-glucosidase, cost, 4-glucosidase acid deficiency, Deficiency, like-glycosyltransferase, Type II, Cost Measure, glycosyltransferase-like protein LARGE1"],"additional_accession":[]},"is_claimable":false,"name":"MYOSEQ project","description":"The MYOSEQ project focuses on the application of next generation sequencing, in particular whole exome sequencing (WES), in a large cohort of patients with unexplained limb‐girdle weakness (LGW). Focusing on undiagnosed patients with a clearly defined clinical phenotype enables increased diagnostic rates for known genes (in particular Pompe disease, GNE related pathologies and other known LGMD subtypes) in this cohort, while the use of WES provides scope both for new gene discovery and for additional research into disease modifiers and genotype‐phenotype correlation with substantial cost effectiveness. The LGW patient cohort was collated by Newcastle University in collaboration with clinical centers across Europe. The sequencing was performed at the Broad Institute and jointly analyzed with Newcastle University.","dates":{"updated":"2020-07-16 15:33:08"},"accession":"EGAS00001002069","cross_references":{"TAXONOMY":["9606"],"EGA":["EGAD00001006158","EGAC00001000566"]}}