ABSTRACT
Bioinformatics is rapidly maturing to a powerful discipline that is poised to transform the way genomic medicine is performed. However, current algorithms, programs, and frameworks for bioinformatic analysis of WES/WGS data are far from being able to reliably interpret WES/WGS data without expert human interpretation. This chapter reviews several situations in which medical knowledge can be essential for the correct interpretation of WES/WGS data. Some centers involved in medical genomics have begun to hold "genome conferences" similar in intent to the "tumor conferences" that are a standard part of medical care in oncology. The carrier status does not affect the health of the individual, and the finding of a heterozygous mutation in genes associated with autosomal recessive disease is not in itself an indication for further medical workup. The pseudogene has a number of differences compared to the actual gene including premature stop codons.
