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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.
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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  Data: Improved variant detection using long-read sequencing and optical mapping: Illustration in STRC-related hearing loss.
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  Data: <searchLink fieldCode="AU" term="%22Laurent+S%22">Laurent S</searchLink>; Genetic Medicine Service, University Hospitals of Geneva, Switzerland.<br /><searchLink fieldCode="AU" term="%22Vannier+A%22">Vannier A</searchLink>; Genetic Medicine Service, University Hospitals of Geneva, Switzerland.<br /><searchLink fieldCode="AU" term="%22Gehrig+C%22">Gehrig C</searchLink>; Genetic Medicine Service, University Hospitals of Geneva, Switzerland.<br /><searchLink fieldCode="AU" term="%22Abramowicz+M%22">Abramowicz M</searchLink>; Genetic Medicine Service, University Hospitals of Geneva, Switzerland; Department of Genetic Medicine and Development, Faculty of Medicine, University of Geneva, Geneva, Switzerland.<br /><searchLink fieldCode="AU" term="%22Paoloni-Giacobino+A%22">Paoloni-Giacobino A</searchLink>; Genetic Medicine Service, University Hospitals of Geneva, Switzerland; Department of Genetic Medicine and Development, Faculty of Medicine, University of Geneva, Geneva, Switzerland.<br /><searchLink fieldCode="AU" term="%22Cao+Van+H%22">Cao Van H</searchLink>; Pediatric Otolaryngology Unit, Department of Otorhinolaryngology, Head and Neck Surgery, University Hospitals of Geneva, Switzerland.<br /><searchLink fieldCode="AU" term="%22Guipponi+M%22">Guipponi M</searchLink>; 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.
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  Data: <searchLink fieldCode="JN" term="%22101247089%22">European journal of medical genetics</searchLink> [Eur J Med Genet] 2025 Feb; Vol. 73, pp. 104986. <i>Date of Electronic Publication: </i>2024 Dec 05.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Elsevier%22">Elsevier </searchLink><i>Country of Publication: </i>Netherlands <i>NLM ID: </i>101247089 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1878-0849 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2217697212%22">17697212 </searchLink><i>NLM ISO Abbreviation: </i>Eur J Med Genet <i>Subsets: </i>MEDLINE
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              Text: 2025 Feb
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