paolabronson

Human genetics is a broad term, in this context we are referring specifically to the study of common & rare genetic variation in humans to better understand polygenic complex traits. There has been a lot of progress since the Human Genome Project published the first draft of the human genome (2001), and the first genomewide association study (GWAS) (2005). Key issues include: - Genetic architecture of common complex disease - Source of missing heritability - Contribution of rare variants - Going from GWAS locus to causal gene to causal variant - Target identification & validation - Translating human genetic findings into the clinic, for drug discovery & precision medicine