Whole-exome sequencing for identification of pathogenic BBS10 variants
收藏NIAID Data Ecosystem2026-05-10 收录
下载链接：
https://www.ncbi.nlm.nih.gov/sra/SRP646709
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资源简介：
This project performed whole-exome sequencing (WES) on genomic DNA isolated from human peripheral blood to conduct a comprehensive genetic analysis. Sequencing was performed on an Illumina NovaSeq 6000 platform (2 x 150 bp, paired-end). The analysis aimed to identify pathogenic variants and successfully identified compound heterozygous pathogenic variants in the BBS10 gene.
创建时间：
2025-11-19
