{"database":"EGA","file_versions":[],"scores":null,"additional":{"omics_type":["Genomics"],"study_type":["Whole Genome Sequencing"],"full_dataset_link":["https://ega-archive.org/studies/EGAS00001006371"],"host":["EGA"],"description":["EGA study EGAS00001006371"],"dataset_title":["Whole-genome and transcriptome sequencing files obtained in monozygotic twins discordant for Mayer-Rokitansky-Küster-Hauser syndrome"],"repository":["EGA"],"category":["restricted"],"name_synonyms":["cluster, NOS\" EXACT [SNOMEDCT_2005_07_31:64572001], symptom cluster, Syndromes, \"syndrome, syndrome associated with disease or disorder, Cluster, Genomes, Symptom Cluster, syndromic disease, \"syndrome\" EXACT [MTH:NOCODE], Symptom Clusters, Twin, symptom clusters, symptom, syndrome, whole genome, Clusters, syndromes, syndromic disease or disorder, Symptom, clusters, symptom."],"description_synonyms":["cluster, study, Complete, Whole Genome, syndrome associated with disease or disorder, whole blood, twn, ccr4, familial, Complete Genome Sequencing, DmelCG31137, Tissue, Genome Sequencing, syndrome, Clusters, syndromes, CT39331, syndromic disease or disorder, CG31137, Symptom, Sequencing, Ccr4, CCR4, clusters, CG17741, genetic, NOS\" EXACT [SNOMEDCT_2005_07_31:64572001], symptom cluster, Complete Genome, Syndromes, \"syndrome, Cluster, Symptom Cluster, syndromic disease, Whole, \"syndrome\" EXACT [MTH:NOCODE], Symptom Clusters, Twin, symptom clusters, Twin., symptom, CG5534, inherited genetic, simple tissue, constitutitional genetic, hereditary, BEST:GH20274"],"additional_accession":[]},"is_claimable":false,"name":"Genome sequencing in monozygotic twins discordant for Mayer-Rokitansky-Küster-Hauser syndrome","description":"In this study, we sought to identify the genetic causes of Mayer-Rokitansky-Küster-Hauser syndrome in monozygotic discordant twins using whole genome sequencing of blood of twin pairs as well as uterine tissue of the affected twins.","dates":{"updated":"2022-08-30 17:14:09"},"accession":"EGAS00001006371","cross_references":{"TAXONOMY":["9606"],"EGA":["EGAD00001008992","EGAC00001002739"]}}