Clinical Applicability of Whole-Exome Sequencing Exemplified by a Study in Young Adults with the Advanced Cryptogenic Cholestatic Liver Diseases
Table 4
Variant characteristics, including global minor allele frequency (GMAF) in 1000 genomes project, European American minor allele frequency (EA MAF) in NHLBI exome sequencing project (ESP), and deleteriousness prediction according to SIFT and PolyPhen are provided.