A framework to infer de novo exonic variants when parental genotypes are missing enhances association studies of autism
Haeun Moon, Laura Gail Sloofman, Marina Natividad Avila, Lambertus Klei, Bernie Devlin, Joseph D. Buxbaum, Kathryn Roeder
The paper introduces a framework to infer de novo exonic variants without parental genotypes, enhancing autism association studies by improving gene-based tests and controlling false discovery rates.
Bioinformatics · Apr 28, 2026Peer-reviewedBioinformatics