Jacques Fellay, Amalio Telenti, Istvan Bartha, Nimisha Chaturvedi, Paul Jack Mc Laren
Sequencing projects have identified large numbers of rare stop-gain and frameshift variants in the human genome. As most of these are observed in the heterozygous state, they test a gene's tolerance to haploinsufficiency and dominant loss of function. We a ...
Public Library Science2015
