Long read whole genome sequencing-based discovery of structural variants and their role in aetiology of non-syndromic autism spectrum disorder in India.

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Title: Long read whole genome sequencing-based discovery of structural variants and their role in aetiology of non-syndromic autism spectrum disorder in India.
Authors: Shah J; Foundation for Research in Genetics and Endocrinology, Institute of Human Genetics, FRIGE House, Jodhpur Village Road, Ahmedabad, 380015, India., Mondal D; Centre for Brain Research, Indian Institute of Science Campus, CV Raman Avenue, Bangalore, 560012, India., Jain D; Shishu Child Development And Early Intervention Centre, Ahmedabad, India., Mhatre P; Tender Kinds Centre for Child Development, Navi Mumbai, India., Patel K; Speciality Homeopathic Clinic, Ahmedabad, India., Iyer A; Apollo Hospitals International Ltd, Ahmedabad, India., Pandya M; Kadam Maternity Home, Ahmedabad, India., Menghani B; Children's Institute for Development and Advancement Centre, Vadodara, India., Dave G; P D Patel Institute of Applied Sciences, Charotar University of Science and Technology, Changa, India., Sheth J; Foundation for Research in Genetics and Endocrinology, Institute of Human Genetics, FRIGE House, Jodhpur Village Road, Ahmedabad, 380015, India., Sheth F; Foundation for Research in Genetics and Endocrinology, Institute of Human Genetics, FRIGE House, Jodhpur Village Road, Ahmedabad, 380015, India., Ramdas S; Centre for Brain Research, Indian Institute of Science Campus, CV Raman Avenue, Bangalore, 560012, India. shwetaramdas@iisc.ac.in., Sheth H; Foundation for Research in Genetics and Endocrinology, Institute of Human Genetics, FRIGE House, Jodhpur Village Road, Ahmedabad, 380015, India. harsh.sheth@frige.co.in.
Source: BMC medical genomics [BMC Med Genomics] 2025 Aug 20; Vol. 18 (1), pp. 131. Date of Electronic Publication: 2025 Aug 20.
Publication Type: Journal Article
Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium: Internet ISSN: 1755-8794 (Electronic) Linking ISSN: 17558794 NLM ISO Abbreviation: BMC Med Genomics Subsets: MEDLINE
Database: MEDLINE Ultimate
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ISSN:1755-8794
DOI:10.1186/s12920-025-02204-6