Abstract
Editorial summaryGene finding is a finite exercise, and a means to an end, rather than an end in itself. The field of human genetics should increasingly shift its attention from disease gene identification to following through on next steps, most importantly pursuing the biological mechanisms underlying genotype-phenotype associations.
Highlights
Gene finding is a finite exercise, and a means to an end, rather than an end in itself
Somatic mutations identified through exome or genome sequencing [4]. The distinctions between these high-yield paradigms are decreasing, as affordable whole-genome sequencing provides a comprehensive means for assessing the contribution of de novo, rare and common variations in both coding and non-coding regions of the genome to the full spectrum of human phenotypes
High-yield paradigms We are in a period of rich discovery in human genetics and genomics
Summary
Gene finding is a finite exercise, and a means to an end, rather than an end in itself. Several high-yield paradigms - approaches that are exceptionally successful in generating discoveries - have emerged that exploit these technologies to uncover the genetic underpinnings of disease.
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