Comprehensive evaluation of a prospective Australian patient cohort with suspected genetic kidney disease undergoing clinical genomic testing: a study protocol.
Kushani JayasingheZornitza StarkChirag PatelAmali MallawaarachchiHugh McCarthyRandall FaullAron ChakeraMadhivanan SundaramMatthew JosePeter KerrYou WuLouise WardropIlias GoranitisStephanie BestMelissa MartynCatherine QuinlanAndrew J MallettPublished in: BMJ open (2019)
The project has received ethics approval from the Melbourne Health Human Research Ethics Committee as part of the Australian Genomics Health Alliance protocol: HREC/16/MH/251. All participants will provide written informed consent for data collection and to undergo clinically relevant genetic/genomic testing. The results of this study will be published in peer-reviewed journals and will also be presented at national and international conferences.
Keyphrases
- public health
- copy number
- big data
- healthcare
- randomized controlled trial
- study protocol
- quality improvement
- mental health
- endothelial cells
- genome wide
- health information
- clinical trial
- global health
- case report
- single cell
- electronic health record
- gene expression
- human health
- risk assessment
- dna methylation
- deep learning