Skip to main content
zenodoopen

Reads and truth variant set for benchmarking variant calling/genotyping

<p><em>downsampled.fasta</em> is created by converting this file (ftp://<a href="http://ftp-trace.ncbi.nlm.nih.gov/giab/ftp/data/AshkenazimTrio/HG002_NA24385_son/NIST_HiSeq_HG002_Homogeneity-10953946/HG002Run01-11419412/HG002run1_S1.bam">ftp-trace.ncbi.nlm.nih.gov/giab/ftp/data/AshkenazimTrio/HG002_NA24385_son/NIST_HiSeq_HG002_Homogeneity-10953946/HG002Run01-11419412/HG002run1_S1.bam</a>)&nbsp;to fasta and picking every second read (to get half the coverage and half the number of reads).</p> <p><em>The&nbsp;HG002_GRCh37_GIAB_highconf_CG</em>... file is created by picking variants on chromosome from this file (ftp://<a href="http://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">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</a>).</p> <p>&nbsp;</p> <p><strong>These two files can be used in benchmarking variant calling/genotyping.</strong></p>

ShareScore

40/100

Overall dataset sharing score

Score breakdown

These five areas show where the dataset supports — or may limit — practical reuse.

Stewardship
4
Harmonization
4
Access
20
Reuse readiness
8
Engagement
4