遇见数据集

Reads and truth variant set for benchmarking variant calling/genotyping

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Zenodo2019-10-30 更新2026-04-07 收录
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<em>downsampled.fasta</em> is created by converting this file (ftp://ftp-trace.ncbi.nlm.nih.gov/giab/ftp/data/AshkenazimTrio/HG002_NA24385_son/NIST_HiSeq_HG002_Homogeneity-10953946/HG002Run01-11419412/HG002run1_S1.bam) to fasta and picking every second read (to get half the coverage and half the number of reads). <em>The HG002_GRCh37_GIAB_highconf_CG</em>... file is created by picking variants on chromosome from this file (ftp://ftp-trace.ncbi.nlm.nih.gov/giab/ftp/release/AshkenazimTrio/HG002_NA24385_son/NISTv3.3.2/GRCh37/HG002_GRCh37_GIAB_highconf_CG-IllFB-IllGATKHC-Ion-10X-SOLID_CHROM1-22_v.3.3.2_highconf_triophased.vcf.gz). <strong>These two files can be used in benchmarking variant calling/genotyping.</strong>

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2019-10-30
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