This is the blog for GW students taking Human Evolutionary Genetics. This site is for posting interesting tidbits on: the patterns and processes of human genetic variation;human origins and migration; molecular adaptations to environment, lifestyle and disease; ancient and forensic DNA analyses; and genealogical reconstructions.

GWHEG figure

GWHEG figure

Thursday, April 30, 2020

The Deep Genome Project

Mice are often used as an organism to study human disease, due to the high number of orthologous genes. Genomic studies over the decades have been able to computationally predict and annotate a large number of genes. However, according to the authors, "more than 75 to 80% of the computationally annotated ~ 20,000 genes in the human genome have not had variation in them tied to any specific phenotype."


To fill in this gap between genotype and phenotype, the authors call for the establishment of an ambitious "Deep Genome Project" to sort of be the spiritual successor to the Human Genome Project (which, as we learned in class, still left a lot of biological questions unanswered).

"The implementation of a Deep Genome Project—to deliver the functional biological annotation of all human orthologous genomic elements in mice—is an essential and executable strategy to transform our understanding of genetic and genomic variation in human health and disease that will catalyze delivery of the promised benefits of genomic medicine to children and adults around the world."



Zac Truesdell - Journal update - Genome Biology - 4
https://genomebiology.biomedcentral.com/articles/10.1186/s13059-020-1931-9

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