Whole-Exome Sequencing Protocol for Genetic Screening

A total of 3 mL of peripheral venous blood was collected from the affected individuals for whole-exome sequencing. Genomic DNA was extracted using the GenMagBio Genomic DNA Purification kit (GenMagBio, Changzhou, China) according to the manufacturer’s protocol. Following fragmentation and end-repair of the genomic DNA from the proband, adapter ligation, and PCR enrichment were conducted as per the manufacturer’s instructions for the VAHTS TM Universal DNA Library Prep Kit for Illumina V3 (Vazyme Biotech Co., Ltd, Nanjing, China). The SureSelect Human All Exon V7 (Agilent) was utilized to capture the exons and the flanking regions of all known genes. The library was subsequently sequenced using an Illumina HiSeq 4000 sequencer in pair-end 150 mode at the Precision Medicine Center of Zhengzhou University, Zhengzhou, China [18 (link)].

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Zhang H., Gao J., Wang H., Liu M., Lu S., Xu H., Tang W, & Zheng G. (2024). Novel likely pathogenic variant in the EYA1 gene causing Branchio oto renal syndrome and the exploration of pathogenic mechanisms. BMC Medical Genomics, 17, 89.

Publication 2024

VAHTS TM Universal DNA Library Prep Kit for Illumina V3 SureSelect Human All Exon V7 HiSeq 4000 sequencer

Corresponding Organization :

Other organizations : Second Affiliated Hospital of Xi'an Jiaotong University, Zhengzhou University, Second Affiliated Hospital of Zhengzhou University

Top 5 similar protocols

Variable analysis

independent variables

Collection of 3 mL of peripheral venous blood from affected individuals

dependent variables

Whole-exome sequencing

control variables

Genomic DNA extraction using the GenMagBio Genomic DNA Purification kit
Fragmentation and end-repair of genomic DNA from the proband
Adapter ligation and PCR enrichment using the VAHTS TM Universal DNA Library Prep Kit for Illumina V3
Exon capture using the SureSelect Human All Exon V7 (Agilent)
Sequencing using an Illumina HiSeq 4000 sequencer in pair-end 150 mode

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