poly- peptide of copper-transporting adenosine triphosphatase (ATP7A Chr )C77,271,307C>T, c.2555C>T, i, aberrant forms of which are known to cause Menkes disease, a copper-transport disorder. This variant—new to our database and dbSNP—specified a nonconserva- tive substitution in an amino acid that wa

lerant From Tolerant sub- stitutions), PolyPhen2 (Polymorphism Phenotyping), and BLOSUM (B1nrlec SUbstitution Matrix) scores. The known diagnosis of Menkes disease (OMIM number 309400) was recapitulated. As a further assess- ment of the reliability of variant detection of rapid WGS, samples UDT002 and