GenomicsPLOS Computational BiologyPeer-reviewed
Heterozygous gene truncation delineates the human haploinsufficient genome
István Bartha, Antonio Rausell, Paul McLaren…·Amalio Telenti
The paper estimates that 10.8% of human genes are haploinsufficient based on truncating variants in 11,546 individuals.
DOI 10.1371/journal.pcbi.1004647