The evolving role of first-tier exome sequencing in medical diagnostics
Author:
Affiliation:
1. Nephrology and Dialysis Unit, Meyer Children's Hospital IRCCS , Florence , Italy
2. Department of Biomedical, Experimental and Clinical Sciences “Mario Serio”, University of Florence , Florence , Italy
Publisher
Oxford University Press (OUP)
Subject
Transplantation,Nephrology
Link
https://academic.oup.com/ndt/advance-article-pdf/doi/10.1093/ndt/gfad222/52406073/gfad222.pdf
Reference10 articles.
1. A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders;Stark;Genet Med,2016
2. Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders;Srivastava;Genet Med,2019
3. The cost trajectory of the diagnostic care pathway for children with suspected genetic disorders;Dragojlovic;Genet Med,2020
4. Genomic diagnosis of rare pediatric disease in the United Kingdom and Ireland;Wright;N Engl J Med,2023
5. Genome Alert!: a standardized procedure for genomic variant reinterpretation and automated gene-phenotype reassessment in clinical routine;Yauy;Genet Med,2022
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2. Reflections on my international genetic counseling rotations: Contrasts in practice between India and the United States;Genetics in Medicine Open;2024-07
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