Clinical impact of genomic testing in patients with suspected monogenic kidney disease

To determine the diagnostic yield and clinical impact of exome sequencing (ES) in patients with suspected monogenic kidney disease. We performed clinically accredited singleton ES in a prospectively ascertained cohort of 204 patients assessed in multidisciplinary renal genetics clinics at four terti...

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Veröffentlicht in:	Genetics in medicine 2021-01, Vol.23 (1), p.183-191
Hauptverfasser:	Jayasinghe, Kushani, Stark, Zornitza, Kerr, Peter G., Gaff, Clara, Martyn, Melissa, Whitlam, John, Creighton, Belinda, Donaldson, Elizabeth, Hunter, Matthew, Jarmolowicz, Anna, Johnstone, Lilian, Krzesinski, Emma, Lunke, Sebastian, Lynch, Elly, Nicholls, Kathleen, Patel, Chirag, Prawer, Yael, Ryan, Jessica, See, Emily J., Talbot, Andrew, Trainer, Alison, Tytherleigh, Rigan, Valente, Giulia, Wallis, Mathew, Wardrop, Louise, West, Kirsty H., White, Susan M., Wilkins, Ella, Mallett, Andrew J., Quinlan, Catherine
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Australia Biomedical and Life Sciences Biomedicine Child chronic kidney disease Collaboration Exome exome sequencing Families & family life Family medical history Genetic counseling genetic kidney disease Genetic Testing Genetics Genomics Health services Hospitals Human Genetics Humans Kidney diseases Kidney Diseases - diagnosis Kidney Diseases - genetics Laboratories Laboratory Medicine Medicine Nephrology Patients Pediatrics Whole Exome Sequencing
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