Heterozygous gene truncation delineates the human haploinsufficient genome
István Bartha, Antonio Rausell, Paul McLaren, Manuel Tardaguila, Pejman Mohammadi, Nimisha Chaturvedi, Jacques Fellay, Amalio Telenti
The paper estimates that 10.8% of human genes are haploinsufficient based on truncating variants in 11,546 individuals.
PLOS Computational Biology · Dec 7, 2015Peer-reviewedGenomics