Next-generation sequencing and the evolution of data sharing.
Nara Lygia de Macena SobreiraAda HamoshPublished in: American journal of medical genetics. Part A (2021)
Disease gene identification often relies on identifying multiple affected individuals with similar phenotypes and candidate variants in the same gene. Phenotypic and genomic data sharing tools have facilitated connections that led to novel disease gene discoveries and better characterization and recognition of rare diseases. Additionally, data sharing has evolved. From gene-based matches to variant-level information with increasing use of phenotypic information. We expect that these initiatives will continue to expand in the future affording clinicians, researchers, and most importantly, patients and their families faster and more comprehensive answers.
Keyphrases
- copy number
- health information
- genome wide
- electronic health record
- social media
- genome wide identification
- end stage renal disease
- big data
- ejection fraction
- dna methylation
- chronic kidney disease
- gene expression
- healthcare
- palliative care
- prognostic factors
- machine learning
- peritoneal dialysis
- artificial intelligence
- quality improvement
- current status
- genome wide analysis
- deep learning
- cell free