Identifying structural variation (SV) is essential for genome interpretation but has been
historically difficult due to limitations inherent to available genome technologies. Detection …

Omics techniques generate large, multidimensional data that are amenable to analysis by
new informatics approaches alongside conventional statistical methods. Systems theories …

Abstract The Zoonomia Project is investigating the genomics of shared and specialized traits
in eutherian mammals. Here we provide genome assemblies for 131 species, of which all …

Thousands of genomic regions have been associated with heritable human diseases, but
attempts to elucidate biological mechanisms are impeded by an inability to discern which …

Interpreting the effects of genetic variants is key to understanding individual susceptibility to
disease and designing personalized therapeutic approaches. Modern experimental …

Despite advances in high-throughput sequencing that have revolutionized the discovery of
gene defects in rare Mendelian diseases, there are still gaps in translating individual …

We present the largest whole-genome sequencing (WGS) study of non-small cell lung
cancer (NSCLC) to date among 6,004 individuals of Chinese ancestry, coupled with 23,049 …

Purpose Mendelian disease genomic research has undergone a massive transformation
over the past decade. With increasing availability of exome and genome sequencing, the …

The use of the human reference genome has shaped methods and data across modern
genomics. This has offered many benefits while creating a few constraints. In the following …

Population Genetics and Microevolutionary Theory Explore the fundamentals of the
biological implications of population genetic theory In the newly revised Second Edition of …