We are entering an era where the discovery of disease genes is conducted at the genome scale, and where integration of multiple types of ‘big data’ is used to elucidate variant-phenotype correlations. Additionally, a growing number of studies are identifying considerable overlap between common and rare human diseases, and further refining our understanding of their biology and the mechanisms by which they develop.
Genome Biology highlights important advances in human disease genomics with a special issue showcasing important work in this area.
The wealth of available genetic information is allowing the reconstruction of human demographic and adaptive history. Demography and purifying selection affect the purge of rare, deleterious mutations from the…
Genome Biology 2016 17:225
Published on: 7 November 2016
The identification of causal genes from genome-wide association studies (GWAS) is the next important step for the translation of genetic findings into biologically meaningful mechanisms of disease and potentia…
Genome Biology 2016 17:212
Published on: 1 November 2016
Neuropsychiatric disorders are common forms of disability in humans. Despite recent progress in deciphering the genetics of these disorders, their phenotypic complexity continues to be a major challenge. Mende…
Genome Biology 2016 17:195
Published on: 27 September 2016
Schizophrenia is a highly heritable, neuropsychiatric disorder characterized by episodic psychosis and altered cognitive function. Despite success in identifying genetic variants associated with schizophrenia,…
Genome Biology 2016 17:176
Published on: 30 August 2016