Emily A.W. Nadeau

The paper calibrates three new computational tools for clinical variant classification, finding they provide evidence strength comparable to previously recommended tools.

The paper assesses rare missense variants in genome sequences using PP3/BP4 evidence strength classifications and finds few variants meet strong or moderate criteria.

This paper reviews the phenotypic spectrum of MUTYH-associated polyposis (MAP) to clarify associations between pathogenic MUTYH variants and various cancers and extracolonic manifestations.