Transcriptome-wide outlier approach identifies individuals with minor spliceopathies.

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Bibliographic Details
Title: Transcriptome-wide outlier approach identifies individuals with minor spliceopathies.
Authors: Arriaga MT; Dept. of Genetics, Stanford Univ., Stanford, CA., Mendez R; Department of Medicine, Stanford Univ., Stanford, CA., Ungar RA; Dept. of Genetics, Stanford Univ., Stanford, CA.; Stanford Center for Biomedical Ethics, Stanford Univ., Stanford, CA., Bonner DE; Div. of Med. Genetics, Dept. of Pediatrics, Stanford Univ., Stanford, CA., Matalon DR; Div. of Med. Genetics, Dept. of Pediatrics, Stanford Univ., Stanford, CA., Lemire G; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA.; Div. of Genetics and Genomics, Boston Children's Hospital, Boston, MA., Goddard PC; Dept. of Genetics, Stanford Univ., Stanford, CA., Padhi EM; Dept. of Pathology, Stanford Univ., Stanford, CA., Miller AM; Dept. of Pathology, Stanford Univ., Stanford, CA., Nguyen JV; Dept. of Pathology, Stanford Univ., Stanford, CA., Ma J; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA., Smith KS; Dept. of Pathology, Stanford Univ., Stanford, CA., Scott SA; Dept. of Pathology, Stanford Univ., Stanford, CA.; Clinical Genomics Laboratory, Stanford Medicine, Stanford, CA., Liao L; Clinical Genomics Laboratory, Stanford Medicine, Stanford, CA., Ng Z; Clinical Genomics Laboratory, Stanford Medicine, Stanford, CA., Marwaha S; Div. of Cardiovascular Medicine, Stanford Univ. School of Medicine, Stanford, CA., Bademci G; John T. Macdonald Foundation Dept. of Human Genetics, Univ. of Miami Miller School of Medicine, Miami, FL., Bivona SA; John T. Macdonald Foundation Dept. of Human Genetics, Univ. of Miami Miller School of Medicine, Miami, FL., Tekin M; John T. Macdonald Foundation Dept. of Human Genetics, Univ. of Miami Miller School of Medicine, Miami, FL., Bernstein JA; Dept. of Pediatrics, Stanford Univ. School of Medicine, Stanford., Montgomery SB; Dept. of Pathology, Stanford Univ., Stanford, CA.; Dept. of Genetics, Stanford Univ., Stanford, CA.; Dept. of Biomedical Data Science, Stanford Univ., Stanford, CA., O'Donnell-Luria A; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA.; Div. of Genetics and Genomics, Boston Children's Hospital, Boston, MA., Wheeler MT; Department of Medicine, Stanford Univ., Stanford, CA., Ganesh VS; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA.; Department of Neurology, Brigham and Women's Hospital, Boston, MA.
Corporate Authors: Undiagnosed Disease Network, Genomics Research to Elucidate the Genetics of Rare Diseases consortium
Source: MedRxiv : the preprint server for health sciences [medRxiv] 2025 Jan 03. Date of Electronic Publication: 2025 Jan 03.
Publication Type: Journal Article; Preprint
Journal Info: Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
Description
DOI:10.1101/2025.01.02.24318941