What are the classifications of uncommon diseases for a research paper?Technical advances in genetics and genomics have potential to impact upon clinical science and the NHS, for example with developments in whole genome sequencing-based diagnostics.
Newborn babies are currently subjected to a blood spot test at day 5 which involves taking a small blood sample to screen for 9 rare but serious health conditions.
If you were to employ whole genome sequencing at birth in the population what medical conditions would you consider screening for and how may this result in improvement in patient diagnosis, care and also novel therapy development.
– Please use only references from peer-reviewed journals; do not include references from sites that have not been peer reviewed
– References should be given as a numbered list and appear as ‘(1)’ in the text. Use the following citation style
Kanoni S, Masca NG, Stirrups KE, Varga TV, Warren HR, Scott RA. Analysis with the exome array identifies multiple new independent variants in lipid loci. Hum Mol Genet 25:4094-4106 (2016)
For references with > 10 authors
Kanoni S, Masca NG, Stirrups KE, Varga TV, et al. Analysis with the exome array identifies multiple new independent variants in lipid loci. Hum Mol Genet 25:4094-4106 (2016)
-document not exceeding 3000 words (excluding tables, figure legends, and references).
– Abstract of no more than 250 words and structure the main part of the report to have Introduction, main section addressing the question, and a brief Conclusion section
Select the genes or medical condition from the published Genomic England website and elucidate the rationale behind their selection. Provide a comprehensive discussion on the testing procedure to be implemented, emphasizing intricate details. It is imperative that the chosen gene is a well-known rare variant. Additionally, incorporate tables and figures to enhance clarity and understanding.
-propose medical conditions would you consider screening for and how may this result in improvement in patient diagnosis, care and also novel therapy development in the UAE
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