Variant Interpretation: Functional Assays to the Rescue.
Sign Up to like & getrecommendations! Published in 2017 at "American journal of human genetics"
DOI: 10.1016/j.ajhg.2017.07.014
Abstract: Classical genetic approaches for interpreting variants, such as case-control or co-segregation studies, require finding many individuals with each variant. Because the overwhelming majority of variants are present in only a few living humans, this strategy… read more here.
Keywords: interpretation; functional assays; genetics; assays rescue ... See more keywords