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Read the paper below and answer the accompanying questions. ‘Whole-genome sequencing expands diagnostic utility and improves clinical...

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Biology

Read the paper below and answer the accompanying questions.

‘Whole-genome sequencing expands diagnostic utility and improvesclinical 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 clinicallyuseful diagnoses?

Briefly describe the relationship between the CNV found and onedisease phenotype – why does discovery of the variant provide adiagnosis (what gene is affected, how, what has that got to do withthe disease?)

Briefly describe the relationship between the variant(s) foundand one disease phenotype – why does discovery of the variantprovide a diagnosis?

Answer & Explanation Solved by verified expert
4.3 Ratings (887 Votes)
Answer How successful was the study at reaching conclusive clinically useful diagnoses In this study Wholegenome sequencing WGS was utilized to identify genetic variants which are useful in clinical diagnosis In 34 of the cases out of 100 patients the WSG technique    See Answer
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