Annotated variants for the 81 COPD candidate genes. Whole exome sequencing variants identified in the 81 COPD candidate genes in the 62 susceptible smokers with COPD (tab "Susceptible") and 30 resista
To facilitate the clinical implementation of genomic medicine by next-generation sequencing, it will be critically important to obtain accurate and consistent variant calls on personal genomes. Multip
We performed whole-exome sequencing of two siblings with intellectual disability to demonstrate the power of EXCAVATOR pipeline in the detection of genomic alterations involved in mental retardation.
