| Literature DB >> 30904063 |
Emily E Groopman1, Ali G Gharavi2.
Abstract
Massively parallel sequencing technologies such as exome sequencing are increasingly applied across medicine. Connaughton et al. report a high diagnostic yield of exome sequencing among adults with hereditary nephropathy or nephropathy of unknown cause. Their findings support broader use of genomic sequencing in nephrology and highlight key associated questions, including how to identify those patients for whom testing is indicated, pinpoint pathogenic variants, and balance the resultant health care benefits and clinical follow-up burden.Entities:
Mesh:
Year: 2019 PMID: 30904063 PMCID: PMC7780545 DOI: 10.1016/j.kint.2018.12.032
Source DB: PubMed Journal: Kidney Int ISSN: 0085-2538 Impact factor: 10.612