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Improved variant detection using long-read sequencing and optical mapping: Illustration in STRC-related hearing loss.

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Bibliographic Details
Title:	Improved variant detection using long-read sequencing and optical mapping: Illustration in STRC-related hearing loss.
Authors:	Laurent S; Genetic Medicine Service, University Hospitals of Geneva, Switzerland., Vannier A; Genetic Medicine Service, University Hospitals of Geneva, Switzerland., Gehrig C; Genetic Medicine Service, University Hospitals of Geneva, Switzerland., Abramowicz M; Genetic Medicine Service, University Hospitals of Geneva, Switzerland; Department of Genetic Medicine and Development, Faculty of Medicine, University of Geneva, Geneva, Switzerland., Paoloni-Giacobino A; Genetic Medicine Service, University Hospitals of Geneva, Switzerland; Department of Genetic Medicine and Development, Faculty of Medicine, University of Geneva, Geneva, Switzerland., Cao Van H; Pediatric Otolaryngology Unit, Department of Otorhinolaryngology, Head and Neck Surgery, University Hospitals of Geneva, Switzerland., Guipponi M; Genetic Medicine Service, University Hospitals of Geneva, Switzerland; Department of Genetic Medicine and Development, Faculty of Medicine, University of Geneva, Geneva, Switzerland. Electronic address: michel.guipponi@hug.ch.
Source:	European journal of medical genetics [Eur J Med Genet] 2025 Feb; Vol. 73, pp. 104986. Date of Electronic Publication: 2024 Dec 05.
Publication Type:	Case Reports; Journal Article
Journal Info:	Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-0849 (Electronic) Linking ISSN: 17697212 NLM ISO Abbreviation: Eur J Med Genet Subsets: MEDLINE
Database:	MEDLINE Ultimate

Description
ISSN:	1878-0849
DOI:	10.1016/j.ejmg.2024.104986