… Nonsense mutations account for $11% of all described gene lesions causing human
inherited disease and $20% of disease-associated single-basepair substitutions affecting gene …

… control and neurological disease collections. This analysis identifies known disease loci and
… CNVs in the general population, with insights relevant to future analyses of genetic disease. …

… in mouse disease model development. In Part II of this review, we list >100 mouse models
of human disease where the homologous gene has been shown to be mutated in both human …

… ) has enabled the chromosome localization of almost 40 genes that predispose to autoimmunity
in animal models and in human disease (Figure 1). Human studies are in their infancy, …

… genes are mutated in almost 3000 inherited human diseases and have good descriptions of
how these mutations affect the human … of clinical and molecular genetic analysis for patients …

… human diseases, we reasoned that additional exploration of genetic correlations between
quantitative traits and diseases would provide more empirical corroboration of shared genetic …

… Study populations suitable for genetic analysis include families with affected cases or
unrelated affected cases and suitable controls. On the left, association studies of unrelated …

… Here, we extend our analysis 6 by genetic mapping of regulatory elements that … of gene
expression in human cells. Our goal is to identify determinants whose ‘targets’ are the genes with …

… The second enabler of inclusive, systematic analysis of genotype–phenotype relationships
has been access to whole-genome sequence data. The scale of genetic analysis based on …

… Our goal in conducting the analysis described in this study was to define a subset of human
disease genes that would benefit most from molecular-genetic analysis in Drosophila. To …