The whole-exome sequencing results of a Chinense patient with CSNB
收藏科学数据银行2022-10-25 更新2026-04-23 收录
下载链接：
https://www.scidb.cn/detail?dataSetId=e22f94e8faff42c08003c6949a872a11
下载链接
链接失效反馈官方服务：
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
