Article

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

2025-02-05

Abstract excerpt

<title>Abstract</title> <p><bold>Background: </bold>Despite having heritability estimates of 80%, approximately 50% cases of autism spectrum disorders (ASD) remain without a genetic diagnosis. Complex structural variants (SVs) detected using long-read genome sequencing are a relatively new class of variants implicated in neurodevelopmental disorders. Short read sequencing (SRS) and chromosomal microarray (CMA) ar...

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Literature Corpus work: 1f192640-7cac-51ab-9952-b4c7cbc2617c
DOI: 10.21203/rs.3.rs-5950423/v1

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Long read whole genome sequencing-based discovery of complex structural variants and their role in aetiology of non-syndromic autism spectrum disorder in IndiaDOI 10.21203/rs.3.rs-5950423/v1Read

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