Whole genome sequencing identifies novel structural variant in a large Indian family affected with X-linked agammaglobulinemia

• Abhinav Jain ,

  Contributed equally to this work with: Abhinav Jain, Geeta Madathil Govindaraj

  Roles Conceptualization, Data curation, Formal analysis, Investigation, Methodology, Software, Validation, Visualization, Writing – original draft, Writing – review & editing

  Affiliations CSIR-Institute of Genomics and Integrative Biology, New Delhi, Delhi, India, Academy of Scientific and Innovative Research (AcSIR), Ghaziabad, Uttar Pradesh, India

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• Geeta Madathil Govindaraj ,

  Contributed equally to this work with: Abhinav Jain, Geeta Madathil Govindaraj

  Roles Conceptualization, Data curation, Formal analysis, Funding acquisition, Investigation, Methodology, Project administration, Resources, Supervision, Writing – original draft, Writing – review & editing

  * E-mail: vinods@igib.in (VS); sridhar@igib.in (SS); geetakkumar@gmail.com (GMG)

  Affiliations Department of Pediatrics, Government Medical College Kozhikode, Kozhikode, Kerala, India, Department of Pediatrics, FPID Regional Diagnostic Centre, Government Medical College Kozhikode, Kozhikode, Kerala, India

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• Athulya Edavazhippurath,

  Roles Data curation, Formal analysis, Methodology, Validation, Visualization

  Affiliations Department of Pediatrics, Government Medical College Kozhikode, Kozhikode, Kerala, India, Multidisciplinary Research Unit, Government College Kozhikode, Kozhikode, Kerala, India

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• Nabeel Faisal,

  Roles Formal analysis, Investigation

  Affiliation Department of Pediatrics, Government Medical College Kozhikode, Kozhikode, Kerala, India

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• Rahul C. Bhoyar,

  Roles Formal analysis, Methodology

  Affiliation CSIR-Institute of Genomics and Integrative Biology, New Delhi, Delhi, India

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• Vishu Gupta,

  Roles Formal analysis, Methodology

  Affiliations CSIR-Institute of Genomics and Integrative Biology, New Delhi, Delhi, India, Academy of Scientific and Innovative Research (AcSIR), Ghaziabad, Uttar Pradesh, India

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• Ramya Uppuluri,

  Roles Formal analysis, Methodology

  Affiliation Department of Pediatric Hematology, Oncology, Blood and Marrow Transplantation, Apollo Hospitals, Chennai, Tamil Nadu, India

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• Shiny Padinjare Manakkad,

  Roles Formal analysis, Methodology

  Affiliation Department of Pediatrics, Government Medical College Kozhikode, Kozhikode, Kerala, India

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• Atul Kashyap,

  Roles Formal analysis, Methodology

  Affiliation CSIR-Institute of Genomics and Integrative Biology, New Delhi, Delhi, India

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• Anoop Kumar,

  Roles Formal analysis, Investigation

  Affiliation CSIR-Institute of Genomics and Integrative Biology, New Delhi, Delhi, India

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• Mohit Kumar Divakar,

  Roles Formal analysis, Methodology

  Affiliations CSIR-Institute of Genomics and Integrative Biology, New Delhi, Delhi, India, Academy of Scientific and Innovative Research (AcSIR), Ghaziabad, Uttar Pradesh, India

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• Mohamed Imran,

  Roles Formal analysis, Methodology

  Affiliations CSIR-Institute of Genomics and Integrative Biology, New Delhi, Delhi, India, Academy of Scientific and Innovative Research (AcSIR), Ghaziabad, Uttar Pradesh, India

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• Sneha Sawant,

  Roles Formal analysis

  Affiliation Department of Pediatric Immunology and Leukocyte Biology, ICMR-National Institute of Immunohaematology, KEM Hospital, Mumbai, Maharashtra, India

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• Aparna Dalvi,

  Roles Formal analysis

  Affiliation Department of Pediatric Immunology and Leukocyte Biology, ICMR-National Institute of Immunohaematology, KEM Hospital, Mumbai, Maharashtra, India

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• Krishnan Chakyar,

  Roles Formal analysis

  Affiliation Department of Pediatrics, Government Medical College Kozhikode, Kozhikode, Kerala, India

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• Manisha Madkaikar,

  Roles Formal analysis

  Affiliation Department of Pediatric Immunology and Leukocyte Biology, ICMR-National Institute of Immunohaematology, KEM Hospital, Mumbai, Maharashtra, India

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• Revathi Raj,

  Roles Formal analysis, Methodology

  Affiliation Department of Pediatric Hematology, Oncology, Blood and Marrow Transplantation, Apollo Hospitals, Chennai, Tamil Nadu, India

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• Sridhar Sivasubbu ,

  Roles Conceptualization, Funding acquisition, Project administration, Resources, Supervision, Writing – review & editing

  * E-mail: vinods@igib.in (VS); sridhar@igib.in (SS); geetakkumar@gmail.com (GMG)

  Affiliations CSIR-Institute of Genomics and Integrative Biology, New Delhi, Delhi, India, Academy of Scientific and Innovative Research (AcSIR), Ghaziabad, Uttar Pradesh, India

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•  [ ... ],
• Vinod Scaria

  Roles Conceptualization, Funding acquisition, Investigation, Project administration, Supervision, Writing – review & editing

  * E-mail: vinods@igib.in (VS); sridhar@igib.in (SS); geetakkumar@gmail.com (GMG)

  Affiliations CSIR-Institute of Genomics and Integrative Biology, New Delhi, Delhi, India, Academy of Scientific and Innovative Research (AcSIR), Ghaziabad, Uttar Pradesh, India

  https://orcid.org/0000-0001-7644-7181

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