The NHGRI Next Generation Mendelian Genetics project uses exome resequencing to identify variants in unsolved Mendelian diseases. This dataset was obtained from exome analyses of people with heredita
Most psoriasis-related genes or loci identified through genome-wide association studies (GWASs) represent common clusters and are located in non-coding regions of the human genome, providing only limi
Additional file 1. Rare protein-changing genetic variants identified in the proband by whole exome sequencing. The table provides information on missense, nonsense, frameshift and splicing genetic var
Point mutations from exome-sequencing. Point mutations, sequencing reads and mutation frequency in tamoxifen-resistant cells (Resistant Reference Reads, Resistant Variant Reads, Resistant Variant Freq
