Detection of genomic rearrangements from targeted resequencing data in Parkinson's disease patients.
Nino SpataroAna Roca-UmbertLaura Cervera-CarlesMònica VallèsRoger AngladaJavier PagonabarragaBerta Pascual-SedanoAntònia CampolongoJaime KulisevskyFerran CasalsJordi ClarimónElena BoschPublished in: Movement disorders : official journal of the Movement Disorder Society (2016)
Gene dose alterations related to PD can be correctly identified from targeting resequencing data. This approach substantially improves the detection rate of cases with causal genetic alterations. © 2016 The Authors. Movement Disorders published by Wiley Periodicals, Inc. on behalf of International Parkinson and Movement Disorder Society.
Keyphrases
- copy number
- end stage renal disease
- electronic health record
- ejection fraction
- genome wide
- newly diagnosed
- cancer therapy
- big data
- peritoneal dialysis
- real time pcr
- prognostic factors
- randomized controlled trial
- systematic review
- gene expression
- patient reported outcomes
- dna methylation
- sensitive detection
- genome wide identification