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Article

A Next Generation Sequencing-Based Protocol for Screening of Variants of Concern in Autism Spectrum Disorder.

Cells - 21 Dec 2021

Huang Jie, Liu Jun, Tian Ruiyi, Liu Kevin, Zhuang Patrick, Sherman Hannah Tayla, Budjan Christoph, Fong Michelle, Jeong Min-Seo, Kong Xue-Jun

Abstract excerpt

Autism spectrum disorder (ASD) is a neurodevelopmental disorder with strong genetic influences. There is an increasing demand for ASD genetic testing beyond the traditionally recommended microarray and syndromic autism testing; however, the current whole genome sequencing (WGS) and whole exome sequencing (WES) methods are lacking an academic standard for WGS variant annotation, reporting, and interpretation,...

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Share to Autism Spectrum Disorder
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35011571
DOI: 10.3390/cells11010010
PMCID: PMC8750892

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