{"database":"EGA","file_versions":[],"scores":null,"additional":{"omics_type":["Genomics"],"study_type":["Other"],"full_dataset_link":["https://ega-archive.org/studies/EGAS00001003234"],"host":["EGA"],"description":["EGA study EGAS00001003234"],"dataset_title":["Achilles tendinopathy exome data"],"repository":["EGA"],"category":["restricted"],"name_synonyms":["tendon disease, Complete Exome Sequencings, Complete Exome, disorder of tendon, Exome, familial, tendon disease or disorder, Factor, Risk Factor Score, Risk Factor Scores, tendinopathy., Exome Sequencing, Risk Factors, disease of the tendon, Tendonopathy, Tendinopathies, disease of tendon, Tendonopathies, Score, Whole Transcriptome, Transcriptome Sequencing, Tendinitis, tendonosis, Risk Factor, Correlates, tendonopathy, Tendonosis, Tendinosis, WES, Complete Transcriptome, Tendonitides, Complete, Tendinoses, Complete Transcriptome Sequencing, Exome Sequencings, Populations at Risk, Factors, Social Risk Factors, Risk, Tendonitis, Tendonoses, Complete Exome Sequencing, Whole Transcriptome Sequencing, Risk Score, disease or disorder of tendon, Sequencing, Population at Risk, Risk Scores, genetic, Social, Social Risk, Whole Exome, Health, Health Correlates, Whole, Whole Exome Sequencing, Social Risk Factor, inherited genetic, Tendinitides, constitutitional genetic, Transcriptome Sequencings, hereditary"],"description_synonyms":["Research Related Injuries, Materials, Activity, determination, Complete Exome, Laboratory, Wound, stRNA, Physical, Gene, Profiles, Injuries and Wounds, prevention, trauma, Relative, Small, disease of the tendon, Wounds, Regions, Associations, disease of tendon, Whole Transcriptome, Transcriptome Sequencing, Tendinitis, Research Activity, prevention and control, Laboratory Research, Research-Related, tendonopathy, Soft Tissue Injury, tendinopathy, Priorities, Tendonosis, study, Tendinosis, WES, Tendonitides, Injury, Complete, Small Temporal, Exome Sequencings, Genetic, reference sample, Research, Profile, Complete Exome Sequencing, Whole Transcriptome Sequencing, miRNA, Primary miRNA, pri-miRNA, INSDC_feature:ncRNA, Sequencing, genetic, preventive measures, Whole Exome, UTRs, Traumas, Whole, Genetic Profiles, Genotype Profiles, Development and Research, Research Priority, constitutitional genetic, pre miRNA, Controlled, tendon disease, Controlling, RNA, preventive therapy, Complete Exome Sequencings, Data Set, Injury and Wounds, disorder of tendon, Exome, familial, Small Temporal RNA, tendon disease or disorder, Physical Traumas, Research Priorities, Primary, Cistrons, Soft Tissue., results, wounds, Exome Sequencing, Genotype Profile, Priority, Micro RNA, Genotype, Wounds and Injury, Tendonopathy, Trauma, Relative Risks, chemical analysis, Research Activities, Tendinopathies, Tendonopathies, Genetic Materials, Physical Trauma, tendonosis, Region, pre-miRNA, Genetic Material, Relative Risk, Untranslated Region, pri miRNA, Research and Development, Complete Transcriptome, miRNAs, Tendinoses, Complete Transcriptome Sequencing, Risk, Tendonitis, Micro, Temporal RNA, prophylaxis, Tendonoses, Risks, Exomes, Untranslated, Primary MicroRNA, INSDC_feature:gene, disease or disorder of tendon, Injuries, Activities, Phenotypes, control, Material, Whole Exome Sequencing, Research-Related Injuries, Cistron, MicroRNA, inherited genetic, Research-Related Injury, assay, Tendinitides, Transcriptome Sequencings, hereditary, Soft Tissue"],"additional_accession":[]},"is_claimable":false,"name":"An exome sequencing approach to defining the genetic risk factors for Achilles tendinopathy","description":"Musculoskeletal soft tissue injuries are complex phenotypes. Case control association studies using the candidate gene approach have predominantly been used to identify risk loci for these injuries. However, the ability to identify all risk conferring variants using this approach alone is unlikely. Therefore, this study aimed to define the genetic profile of these injuries using whole exome sequencing and a customized analysis pipeline. The exomes of ten exemplar asymptomatic controls and ten exemplar cases with Achilles tendinopathy were individually sequenced using a platform that included the coverage of the untranslated regions and miRBase miRNA genes. These results provide a proof of concept for the use of a customized pipeline for the exploration of a larger genomic dataset. This approach, using previous research to guide a targeted analysis of the data has generated new genetic signatures in the biology of musculoskeletal soft tissue injuries.","dates":{"updated":"2018-10-09 08:51:04"},"accession":"EGAS00001003234","cross_references":{"TAXONOMY":["9606"],"EGA":["EGAD00001004362","EGAC00001000938"]}}