Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease
Enrique Audain, Anna Wilsdon, Jeroen Breckpot, José M. G. Izarzugaza, Tomas W. Fitzgerald, Anne‐Karin Kahlert, Alejandro Sifrim, Florian Wünnemann, Yasset Pérez‐Riverol, Hashim Abdul‐Khaliq, Mads Bak, Anne S. Bassett, JW Belmont, D. Woodrow Benson, F Berger, , MP Hitz
The paper identifies 21 candidate haploinsufficient genes associated with congenital heart disease through integrative analysis of CNVs and DNMs in CHD cases and controls.
PLoS Genetics · Jul 29, 2021Peer-reviewedGenetics