Some representative examples are shown here.

Example 1

Exome sequencing data
we previously reported an exome sequencing study identifying a mutation in PKLR as 'unrelated finding' in a patient with hemolytic anemia, through a study originally designed to uncover the genetic basis of attention deficit/hyperactivity disorder (ADHD) 5. The VCF file is used as the input into wANNOVAR, with 'rare dominant Mendelian disease' selected as disease model. In total, 87 variants were left after the filtration, whose corresponding genes are then submitted automatically as input into Phenolyzer together with the term 'anemia' or 'hemolytic anemia', by wANNOVAR. From the result network, the PKLR gene is ranked top with the term 'hemolytic anemia'


link to the result