Read the paper below and answer the accompanying questions. ‘Whole-genome sequen

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

What technologies were used to COLLECT the data?

What technologies were used to ANALYZE the data?

The authors say that WGS (whole genome sequencing) is a better technology than CMA. Why?

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

Briefly summarize what you consider the main two messages in the paper.

Explanation / Answer

PhenoTips28 was used to capture and record phenotypic data. It is a open source software program which is used for collecting and analysing phenotypic information. The information is represented by Human Phenotype Ontology.

Chromosome microarray analysis is used for copy-number variations and is used for analyzing the data also Whole-genome sequencing is used.

The author considers Whole-genome sequencing better than Chromosome microarray analysis because the former can capture all classes of genetic variation in one experiment. The mutation detection of both the diagnositic tools need to established.

The variant in the gene corresponds to the disease like the variant in genetic mutation dirrectly correlates to autism and cognitive disability.

The paper throws light on the detection and diagnosis of genetic disease and compares the WGS and CMA in mutation detection yield.

Related Questions

Navigate

• Browse (All)
• Browse R
• Subjects

Integrity-first tutoring: explanations and feedback only — we do not complete graded work. Learn more.