The human genome

Volume 373| Issue 6562| 24 Sep 2021


Special issue – Human Genomics
Introduction to Special Issue
The human genome
BY Laura M. Zahn
23 Sep 2021: 1458-1459
In the two decades since the publication of the human genome, advances in genetics have raced forward. Progress in human genomics has produced insights applicable to treating cancer, identifying drug targets, and diagnosing disease—especially in infants. However, despite these steps forward, we still lack the ability to predict how an individual’s inherited genome contributes to aging, complex disease, and even some monogenic diseases. Furthermore, de novo mutations have increasingly been proposed to affect disease onset and progression.
Although some hoped that having the human genome in hand would fuel a sprint to medical miracles, progress in this field is more accurately characterized as an ongoing relay race of contributions from genomic studies. We now have a better understanding of our history from ancient DNA sequencing, which, along with modern human population genetics, provides an idea of which mutations are tolerated and which are likely pathogenic. The effects of mutations, from single-nucleotide polymorphisms to the loss of full genes, and epigenetic changes that modify gene expression in single cells, tumors, and individuals are being investigated in ever-increasing numbers. These efforts have made it easier to identify how both common and rare variants, which may differ among populations, affect the genetic architecture underlying complex traits and disease.
This special issue examines well-earned successes in applying human genomic research toward understanding human evolution, cancer, polygenic traits, and functional genomics. Yet, there is still much ground ahead to cover.