Charting a course for genomic medicine from base pairs to bedside

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How researchers see this paper

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Geography of Genetics and Genomics Research Funding in Africa (2017, background): “For genetics and genomics research, the excitement around opportunities and prospects for gaining foundational understanding of health and disease has been described as unprecedented [3,4].”
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge (2014, background): “Background The transition of genomics from research into clinical practice has begun, predicated on rapidly improving technology, data analysis methods, and more recently and importantly, standardization [1,2].”
Exome sequencing as a tool for Mendelian disease gene discovery (2011, neutral): “As the cost of sequencing continues to fall, the field will probably gradually move from exome to whole-genome sequencing 71 .”
The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities. (2015, neutral): “Introduction Improved understanding of human disease was a primary goal of the Human Genome Project (HGP).(1) This promise has, in part, been realized with the identification of the consequence of germline mutation (single-nucleotide variants [SNVs] and copy-number variants [CNVs]) for more than 2,9”