Complex trait associations in rare diseases and impacts on Mendelian variant interpretation.
Smail C, Ge B, Keever-Keigher MR, Schwendinger-Schreck C, Cheung W, Johnston JJ, Barrett C; Genomic Answers for Kids Consortium; Feldman K, Cohen ASA, Farrow EG, Thiffault I, Grundberg E, Pastinen T.
Smail C, et al.
medRxiv [Preprint]. 2024 Jan 11:2024.01.10.24301111. doi: 10.1101/2024.01.10.24301111.
medRxiv. 2024.
PMID: 38260377
Free PMC article.
Preprint.