Protocol for genetic analysis of population-scale ultra-low-depth sequencing data

Summary: Non-invasive prenatal testing (NIPT) not only enables the detection of chromosomal anomalies in fetuses but also generates vast amounts of ultra-low-depth sequencing data, which can be leveraged for population genomic studies. Here, we present a protocol designed for massive ultra-low-depth...

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Bibliographic Details
Main Authors: Jingyu Zeng, Linxuan Li, Ying Lin, Xianmei Lan, Xinyi Zhang, Yingying Wang, Mingzhi Liao, Xin Jin, Huanhuan Zhu
Format: Article
Language:English
Published: Elsevier 2025-03-01
Series:STAR Protocols
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Online Access:http://www.sciencedirect.com/science/article/pii/S2666166724007445
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Summary:Summary: Non-invasive prenatal testing (NIPT) not only enables the detection of chromosomal anomalies in fetuses but also generates vast amounts of ultra-low-depth sequencing data, which can be leveraged for population genomic studies. Here, we present a protocol designed for massive ultra-low-depth sequencing datasets. We detail the steps for data processing, quality control, and genotype imputation, followed by genome-wide association study (GWAS) and post-GWAS analyses. This protocol applies to a wide range of ultra-low-depth sequencing studies, extending beyond data from NIPT.For complete details on the use and execution of this profile, please refer to Xiao et al.1 : Publisher’s note: Undertaking any experimental protocol requires adherence to local institutional guidelines for laboratory safety and ethics.
ISSN:2666-1667