Article
Advances in genomic testing.
Australian family physician - 1 Jan 2017
Donoghue Sarah, Downie Lilian, Stutterd Chloe
Abstract excerpt
BACKGROUND: Advances in genomic technology and our understanding of Mendelian disease-causing genes have led to an increased use of genomic testing in clinical practice. OBJECTIVE: The aim of this paper is to outline recent advances in genetic and genomic testing and the implications for clinical practice. DISCUSSION: Next-generation genomic sequencing is improving the diagnostic yield for patients with suspected...
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