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