Article
Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease.
PLoS genetics - 1 Jul 2021
Audain Enrique, Wilsdon Anna, Breckpot Jeroen, Izarzugaza Jose M G, Fitzgerald Tomas W, Kahlert Anne-Karin, Sifrim Alejandro, Wünnemann Florian, Perez-Riverol Yasset, Abdul-Khaliq Hashim, Bak Mads, Bassett Anne S, Benson D Woodrow, Berger Felix, Daehnert Ingo, Devriendt Koenraad, Dittrich Sven, Daubeney Piers Ef, Garg Vidu, Hackmann Karl, Hoff Kirstin, Hofmann Philipp, Dombrowsky Gregor, Pickardt Thomas, Bauer Ulrike, Keavney Bernard D, Klaassen Sabine, Kramer Hans-Heiner, Marshall Christian R, Milewicz Dianna M, Lemaire Scott, Coselli Joseph S, Mitchell Michael E, Tomita-Mitchell Aoy, Prakash Siddharth K, Stamm Karl, Stewart Alexandre F R, Silversides Candice K, Siebert Reiner, Stiller Brigitte, Rosenfeld Jill A, Vater Inga, Postma Alex V, Caliebe Almuth, Brook J David, Andelfinger Gregor, Hurles Matthew E, Thienpont Bernard, Larsen Lars Allan, Hitz Marc-Phillip
Abstract excerpt
Numerous genetic studies have established a role for rare genomic variants in Congenital Heart Disease (CHD) at the copy number variation (CNV) and de novo variant (DNV) level. To identify novel haploinsufficient CHD disease genes, we performed an integrative analysis of CNVs and DNVs identified in probands with CHD including cases with sporadic thoracic aortic aneurysm. We assembled CNV data from 7,958 cases and...
Read the complete abstract on PubMed