The whole-exome sequencing results of a Chinense patient with CSNB

Name: The whole-exome sequencing results of a Chinense patient with CSNB
Creator: Institute of Hydrobiology, Chinese Academy of Sciences; Jining No. 1 People's Hospital, Jining, China
Published: 2022-10-14T00:00:00+08:00

科学数据银行2022-10-25 更新2026-04-23 收录

先天性静止性夜盲症基因组学

外显子组测序变异检测

数据链接：

https://www.scidb.cn/detail?dataSetId=e22f94e8faff42c08003c6949a872a11 数据链接链接失效反馈

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资源简介：

The genomic DNA of the CSNB patient was extracted from the whole peripheral-blood sample. Whole-exome sequencing was performed in GENEWIZ (China) using the Illumina HiSeq system for 2x150 paired-end (PE) sequencing. A total of 52428 variations (SNV/InDel) were identified by the GATK haplotypecaller or samtools. The variations were further annotated by Annovar (Version11, Feb2016).The descriptions for the key files:The CSNB2018V5.final.vcf.gz file contains the original data of variations identified in the CSNB patient.The CSNB2018V5_SNPannovar.hg19_multianno.xls & CSNB2018V5_Indelannovar.hg19_multianno.xls files contain the original results of SNP/InDel annotation.The CSNB2018V5_SNP.freq.func.syn.deleterious.xls & CSNB2018V5_Indel.freq.func.syn.deleterious.xls files contain the SNPs/InDels after filtration by the bioinformatic analysis pipelines.

提供机构：

Institute of Hydrobiology, Chinese Academy of Sciences; Jining No. 1 People's Hospital, Jining, China

创建时间：

2022-10-14