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A custom capture sequence approach for oculocutaneous albinism identifies structural variant alleles at the OCA2 locus.

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Title: A custom capture sequence approach for oculocutaneous albinism identifies structural variant alleles at the OCA2 locus.
Authors: Loftus SK; Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., Lundh L; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., Watkins-Chow DE; Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., Baxter LL; Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., Pairo-Castineira E; Roslin Institute, University of Edinburgh, Easter Bush, Edinburgh, UK.; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, Western General Hospital, University of Edinburgh, Edinburgh, UK., Nisc Comparative Sequencing Program; NIH Intramural Sequencing Center, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., Jackson IJ; Roslin Institute, University of Edinburgh, Easter Bush, Edinburgh, UK.; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, Western General Hospital, University of Edinburgh, Edinburgh, UK., Oetting WS; Department of Experimental and Clinical Pharmacology, University of Minnesota, Minneapolis, Minnesota, USA., Pavan WJ; Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., Adams DR; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
Source: Human mutation [Hum Mutat] 2021 Oct; Vol. 42 (10), pp. 1239-1253. Date of Electronic Publication: 2021 Aug 01.
Publication Type: Journal Article; Research Support, N.I.H., Intramural
Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: A custom capture sequence approach for oculocutaneous albinism identifies structural variant alleles at the OCA2 locus.
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  Data: <searchLink fieldCode="AU" term="%22Loftus+SK%22">Loftus SK</searchLink>; Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.<br /><searchLink fieldCode="AU" term="%22Lundh+L%22">Lundh L</searchLink>; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.<br /><searchLink fieldCode="AU" term="%22Watkins-Chow+DE%22">Watkins-Chow DE</searchLink>; Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.<br /><searchLink fieldCode="AU" term="%22Baxter+LL%22">Baxter LL</searchLink>; Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.<br /><searchLink fieldCode="AU" term="%22Pairo-Castineira+E%22">Pairo-Castineira E</searchLink>; Roslin Institute, University of Edinburgh, Easter Bush, Edinburgh, UK.; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, Western General Hospital, University of Edinburgh, Edinburgh, UK.<br /><searchLink fieldCode="AU" term="%22Nisc+Comparative+Sequencing+Program%22">Nisc Comparative Sequencing Program</searchLink>; NIH Intramural Sequencing Center, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.<br /><searchLink fieldCode="AU" term="%22Jackson+IJ%22">Jackson IJ</searchLink>; Roslin Institute, University of Edinburgh, Easter Bush, Edinburgh, UK.; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, Western General Hospital, University of Edinburgh, Edinburgh, UK.<br /><searchLink fieldCode="AU" term="%22Oetting+WS%22">Oetting WS</searchLink>; Department of Experimental and Clinical Pharmacology, University of Minnesota, Minneapolis, Minnesota, USA.<br /><searchLink fieldCode="AU" term="%22Pavan+WJ%22">Pavan WJ</searchLink>; Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.<br /><searchLink fieldCode="AU" term="%22Adams+DR%22">Adams DR</searchLink>; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
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  Data: <searchLink fieldCode="JN" term="%229215429%22">Human mutation</searchLink> [Hum Mutat] 2021 Oct; Vol. 42 (10), pp. 1239-1253. <i>Date of Electronic Publication: </i>2021 Aug 01.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Wiley-Liss%22">Wiley-Liss </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>9215429 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1098-1004 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2210597794%22">10597794 </searchLink><i>NLM ISO Abbreviation: </i>Hum Mutat <i>Subsets: </i>MEDLINE
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        Value: 10.1002/humu.24257
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        Text: English
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              Text: 2021 Oct
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