Data · dataset · 2022
The whole-exome sequencing results of a Chinense patient with CSNB
Listed in ScienceDB
The genomic DNA of the CSNB patient was extracted from the whole peripheral-blood sample.
Description
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.
Links
Where it is published
- DOI doi.org/10.57760/sciencedb.03673 ↗
DOI / persistent id · from scidb cn
Catalogue records · 1
- OAI-PMH record scidb.cn/oai?verb=GetRecord&metadataPrefix=oai_dc&identifier=10.57760%2… ↗
metadata API · from scidb cn
Topics
- From keywords
- Earth & Environmental Science · Engineering · Humanities · Life Sciences · Social Science
- Inferred from text
- Bioinformatics and computational biology 69% · Sequencing 75%
Provenance · 1 source records, 11 field assertions
| Source | Key | Last seen | Raw |
|---|---|---|---|
| ScienceDB | 10.57760/sciencedb.03673 | 12 d ago | JSON v1 |
| Field | Assertion | Extractor | Evidence |
|---|---|---|---|
| concepts[field].anzsrc:group:3102 | enrichment · scidb cn | taxonomy-embedding@1.0.0 | title+keywords+description (69%) |
| concepts[field].local:field:earth-environmental | mapping · scidb cn | connector:scidb_cn@1.0.0 | |
| concepts[field].local:field:engineering | mapping · scidb cn | connector:scidb_cn@1.0.0 | |
| concepts[field].local:field:humanities | mapping · scidb cn | connector:scidb_cn@1.0.0 | |
| concepts[field].local:field:life-sciences | mapping · scidb cn | connector:scidb_cn@1.0.0 | |
| concepts[field].local:field:social-science | mapping · scidb cn | connector:scidb_cn@1.0.0 | |
| concepts[modality].local:modality:sequencing | enrichment · scidb cn | keyword-concept-rules@1.0.0 | title+description (75%) |
| description | source · scidb cn | connector:scidb_cn@1.0.0 | /metadata/dc/description |
| license_text | source · scidb cn | connector:scidb_cn@1.0.0 | |
| publication_date | source · scidb cn | connector:scidb_cn@1.0.0 | |
| title | source · scidb cn | connector:scidb_cn@1.0.0 | /metadata/dc/title |