A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders.
Lee AS, Ayers LJ, Kosicki M, Chan WM, Fozo LN, Pratt BM, Collins TE, Zhao B, Rose MF, Sanchis-Juan A, Fu JM, Wong I, Zhao X, Tenney AP, Lee C, Laricchia KM, Barry BJ, Bradford VR, Jurgens JA, England EM, Lek M, MacArthur DG, Lee EA, Talkowski ME, Brand H, Pennacchio LA, Engle EC.
Lee AS, et al. Among authors: lee ea, lee c.
Nat Commun. 2024 Sep 27;15(1):8268. doi: 10.1038/s41467-024-52463-7.
Nat Commun. 2024.
PMID: 39333082
Free PMC article.