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Global analysis of human genetic variations in protein-coding regions
2019
Do genes enriched in genetic variations that have been linked to human disease have different biological properties than genes enriched in variants that have never been related to disease? What are the characteristics of genes enriched in rare variants, and can they represent the missing link in disease aetiology? The answers to these questions could shed light on the architecture of pathogenesis process and may improve the future studies of genetic disorders. To that end, we analysed 481,277
doi:10.25560/68381
fatcat:icyzdjdvhjfshkveueqq4czloi