2026-10-15T04:36:39Z https://www.scidb.cn/oai

10.57760/sciencedb.03673 2022-10-25T10:14:59Z

2022-10-25 The whole-exome sequencing results of a Chinense patient with CSNB doi:10.57760/sciencedb.03673 en 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. whole-exome sequencing; variation; congenital stationary night blindness Fei Liu Zhen Qu PUBLIC https://creativecommons.org/licenses/by-nc-nd/4.0/ dataset Science Data Bank