Long-read genome and RNA sequencing resolve a pathogenic intronic germline LINE-1 insertion in APC. - Baumann AA; Knol LI; Arlt M; Hutschenreiter T; Richter A; Widmann TJ; Franke M; Hackmann K; Winkler S; Richter D; Spier I; Aretz S; et al. (NPJ genomic medicine, 2025)