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Systematic analysis of homozygous autosomal copy number losses in exomes improves diagnostic yield and uncovers ultra-rare recessive disorders.

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Title: Systematic analysis of homozygous autosomal copy number losses in exomes improves diagnostic yield and uncovers ultra-rare recessive disorders.
Authors: Chaurasia A; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK., Shukla A; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Pande S; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Purushothama G; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Ashokan AK; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Majethia P; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Kaur N; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Upadhyai P; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Quadri N; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Bhavani GS; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Narayanan DL; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Nayak SS; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Nampoothiri S; Department of Paediatric Genetics, Amrita Institute of Medical Sciences & Research Centre, Cochin, India., Sabir AH; West Midlands Clinical Genetics Unit, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.; Department of Cancer and Genomic Sciences, College of Medicine and Health, University of Birmingham, Birmingham, UK., Mohammed AA; West Midlands Genomics Laboratory, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK., Shaw S; All Wales Medical Genomics Service, Wales Genomic Health Centre, Cardiff, UK., Hartill VL; Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, Leeds, UK.; Leeds Clinical Genomics Service, Chapel Allerton Hospital, Leeds, UK., Watson CM; Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, Leeds, UK.; Yorkshire and North East Genomic Laboratory Hub, Central Lab, St. James's University Hospital, Leeds, UK., Johnson CA; Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, Leeds, UK., Alshammari A; Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, Leeds, UK.; Department of Biology, College of Science, University of Hafr Al-Batin, Hafr Al-Batin, Saudi Arabia., Fry AE; All Wales Medical Genomics Service, Wales Genomic Health Centre, Cardiff, UK.; Division of Cancer and Genetics, Cardiff University, Cardiff, UK., Poulter JA; Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, Leeds, UK., Newman WG; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Health Innovation Manchester, Manchester University NHS Foundation Trust, Manchester, UK., Kasher PR; Division of Neuroscience, School of Biological Sciences, Faculty of Biology, Medicine and Health, Manchester Academic Health Science Centre, The University of Manchester, Manchester, UK.; Geoffrey Jefferson Brain Research Centre, Manchester Academic Health Science Centre, Northern Care Alliance NHS Foundation Trust and University of Manchester, Manchester, UK., Banka S; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India. Siddharth.Banka@manchester.ac.uk.; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK. Siddharth.Banka@manchester.ac.uk.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Health Innovation Manchester, Manchester University NHS Foundation Trust, Manchester, UK. Siddharth.Banka@manchester.ac.uk., Girisha KM; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India. g.kumar@squ.edu.om.; Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman. g.kumar@squ.edu.om.
Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2026 Jun 27. Date of Electronic Publication: 2026 Jun 27.
Publication Type: Journal Article
Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE
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  Data: Systematic analysis of homozygous autosomal copy number losses in exomes improves diagnostic yield and uncovers ultra-rare recessive disorders.
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  Data: <searchLink fieldCode="AU" term="%22Chaurasia+A%22">Chaurasia A</searchLink>; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK.<br /><searchLink fieldCode="AU" term="%22Shukla+A%22">Shukla A</searchLink>; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.<br /><searchLink fieldCode="AU" term="%22Pande+S%22">Pande S</searchLink>; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.<br /><searchLink fieldCode="AU" term="%22Purushothama+G%22">Purushothama G</searchLink>; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.<br /><searchLink fieldCode="AU" term="%22Ashokan+AK%22">Ashokan AK</searchLink>; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.<br /><searchLink fieldCode="AU" term="%22Majethia+P%22">Majethia P</searchLink>; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.<br /><searchLink fieldCode="AU" term="%22Kaur+N%22">Kaur N</searchLink>; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.<br /><searchLink fieldCode="AU" term="%22Upadhyai+P%22">Upadhyai P</searchLink>; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.<br /><searchLink fieldCode="AU" term="%22Quadri+N%22">Quadri N</searchLink>; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.<br /><searchLink fieldCode="AU" term="%22Bhavani+GS%22">Bhavani GS</searchLink>; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.<br /><searchLink fieldCode="AU" term="%22Narayanan+DL%22">Narayanan DL</searchLink>; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.<br /><searchLink fieldCode="AU" term="%22Nayak+SS%22">Nayak SS</searchLink>; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.<br /><searchLink fieldCode="AU" term="%22Nampoothiri+S%22">Nampoothiri S</searchLink>; Department of Paediatric Genetics, Amrita Institute of Medical Sciences & Research Centre, Cochin, India.<br /><searchLink fieldCode="AU" term="%22Sabir+AH%22">Sabir AH</searchLink>; West Midlands Clinical Genetics Unit, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.; Department of Cancer and Genomic Sciences, College of Medicine and Health, University of Birmingham, Birmingham, UK.<br /><searchLink fieldCode="AU" term="%22Mohammed+AA%22">Mohammed AA</searchLink>; West Midlands Genomics Laboratory, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.<br /><searchLink fieldCode="AU" term="%22Shaw+S%22">Shaw S</searchLink>; All Wales Medical Genomics Service, Wales Genomic Health Centre, Cardiff, UK.<br /><searchLink fieldCode="AU" term="%22Hartill+VL%22">Hartill VL</searchLink>; Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, Leeds, UK.; Leeds Clinical Genomics Service, Chapel Allerton Hospital, Leeds, UK.<br /><searchLink fieldCode="AU" term="%22Watson+CM%22">Watson CM</searchLink>; Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, Leeds, UK.; Yorkshire and North East Genomic Laboratory Hub, Central Lab, St. James's University Hospital, Leeds, UK.<br /><searchLink fieldCode="AU" term="%22Johnson+CA%22">Johnson CA</searchLink>; Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, Leeds, UK.<br /><searchLink fieldCode="AU" term="%22Alshammari+A%22">Alshammari A</searchLink>; Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, Leeds, UK.; Department of Biology, College of Science, University of Hafr Al-Batin, Hafr Al-Batin, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Fry+AE%22">Fry AE</searchLink>; All Wales Medical Genomics Service, Wales Genomic Health Centre, Cardiff, UK.; Division of Cancer and Genetics, Cardiff University, Cardiff, UK.<br /><searchLink fieldCode="AU" term="%22Poulter+JA%22">Poulter JA</searchLink>; Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, Leeds, UK.<br /><searchLink fieldCode="AU" term="%22Newman+WG%22">Newman WG</searchLink>; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Health Innovation Manchester, Manchester University NHS Foundation Trust, Manchester, UK.<br /><searchLink fieldCode="AU" term="%22Kasher+PR%22">Kasher PR</searchLink>; Division of Neuroscience, School of Biological Sciences, Faculty of Biology, Medicine and Health, Manchester Academic Health Science Centre, The University of Manchester, Manchester, UK.; Geoffrey Jefferson Brain Research Centre, Manchester Academic Health Science Centre, Northern Care Alliance NHS Foundation Trust and University of Manchester, Manchester, UK.<br /><searchLink fieldCode="AU" term="%22Banka+S%22">Banka S</searchLink>; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India. Siddharth.Banka@manchester.ac.uk.; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK. Siddharth.Banka@manchester.ac.uk.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Health Innovation Manchester, Manchester University NHS Foundation Trust, Manchester, UK. Siddharth.Banka@manchester.ac.uk.<br /><searchLink fieldCode="AU" term="%22Girisha+KM%22">Girisha KM</searchLink>; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India. g.kumar@squ.edu.om.; Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman. g.kumar@squ.edu.om.
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