Reference data bundle for CoLoRSdb
收藏Mendeley Data2024-06-28 更新2024-06-27 收录
下载链接：
https://zenodo.org/record/8364158
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资源简介：
Static input files to support alignment, quality control, variant calling, and ancestry estimation using the GRCh38 and CHM13 references in the CoLoRSdb workflow. https://github.com/juniper-lake/CoLoRSdb https://colorsdb.org/ colorsdb_resources/
├── CHM13
│ ├── human_chm13v2.0_maskedY_rCRS.fasta
│ ├── human_chm13v2.0_maskedY_rCRS.fasta.fai
│ ├── human_chm13v2.0_maskedY_rCRS.trf.bed
│ ├── somalier.sites.chm13v2.T2T.vcf.gz
│ └── vcfparser.CHM13.ploidy.txt
└── GRCh38
├── hificnv.cnv.excluded_regions.hg38.bed.gz
├── hificnv.cnv.excluded_regions.hg38.bed.gz.tbi
├── hificnv.female_expected_cn.hg38.bed
├── hificnv.male_expected_cn.hg38.bed
├── human_GRCh38_no_alt_analysis_set.fasta
├── human_GRCh38_no_alt_analysis_set.fasta.fai
├── human_GRCh38_no_alt_analysis_set.trf.bed
├── peddy.GRCH38.sites
├── peddy.GRCH38.sites.bin.gz
├── somalier.sites.hg38.vcf.gz
├── trgt.adotto_repeats.hg38.bed
└── vcfparser.GRCh38.ploidy.txt
2 directories, 17 files
本数据集为CoLoRSdb工作流中，使用GRCh38与CHM13参考基因组开展序列比对、质量控制、变异检出及祖先谱系推断提供静态输入文件。相关链接：https://github.com/juniper-lake/CoLoRSdb、https://colorsdb.org/，数据集目录结构如下：
colorsdb_resources/
├── CHM13
│ ├── human_chm13v2.0_maskedY_rCRS.fasta
│ ├── human_chm13v2.0_maskedY_rCRS.fasta.fai
│ ├── human_chm13v2.0_maskedY_rCRS.trf.bed
│ ├── somalier.sites.chm13v2.T2T.vcf.gz
│ └── vcfparser.CHM13.ploidy.txt
└── GRCh38
├── hificnv.cnv.excluded_regions.hg38.bed.gz
├── hificnv.cnv.excluded_regions.hg38.bed.gz.tbi
├── hificnv.female_expected_cn.hg38.bed
├── hificnv.male_expected_cn.hg38.bed
├── human_GRCh38_no_alt_analysis_set.fasta
├── human_GRCh38_no_alt_analysis_set.fasta.fai
├── human_GRCh38_no_alt_analysis_set.trf.bed
├── peddy.GRCH38.sites
├── peddy.GRCH38.sites.bin.gz
├── somalier.sites.hg38.vcf.gz
├── trgt.adotto_repeats.hg38.bed
└── vcfparser.GRCh38.ploidy.txt
共计2个目录，17个文件
创建时间：
2023-09-25
