Read the paper below and answer the accompanying questions. ‘Whole-genome sequen
ID: 189710 • Letter: R
Question
Read the paper below and answer the accompanying questions.
‘Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine’ Stavropoulos et al. npj Genomic Medicine 1, Article number: 15012 (2016) doi:10.1038/npjgenmed.2015.12
How successful was the study at reaching conclusive clinically useful diagnoses?
Briefly describe the relationship between the CNV found and one disease phenotype – why does discovery of the variant provide a diagnosis (what gene is affected, how, what has that got to do with the disease?)
Briefly describe the relationship between the variant(s) found and one disease phenotype – why does discovery of the variant provide a diagnosis?
Explanation / Answer
Answer:
How successful was the study at reaching conclusive clinically useful diagnoses?
Briefly describe the relationship between the CNV found and one disease phenotype – why does discovery of the variant provide a diagnosis (what gene is affected, how, what has that got to do with the disease?)
Briefly describe the relationship between the variant(s) found and one disease phenotype – why does discovery of the variant provide a diagnosis?
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