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

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

Abstract Background Despite having heritability estimates of 80%, ~ 50% cases of autism spectrum disorders (ASD) remain without a genetic diagnosis. Structural variants (SVs) detected using long-read whole genome sequencing (lrWGS) are a relatively new class of variants implicated in neurodevelopmen...

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Bibliographic Details
Main Authors: Jhanvi Shah, Debasrija Mondal, Deepika Jain, Priti Mhatre, Ketan Patel, Anand Iyer, Manoj Pandya, Bhargavi Menghani, Gayatri Dave, Jayesh Sheth, Frenny Sheth, Shweta Ramdas, Harsh Sheth
Format: Article
Language:English
Published: BMC 2025-08-01
Series:BMC Medical Genomics
Subjects:
Autism spectrum disorder
Long read whole genome sequencing
Structural variants
Oxford nanopore technology
Copy number variants
Inversion
Online Access:https://doi.org/10.1186/s12920-025-02204-6
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