GenapSys Whole Exome Sample Data Set

A whole exome library was generated from the GIAB (Genome In A Bottle) NA12878 sample. Hybrid capture-based enrichment was done using the IDT Exome Research panel (39 Mb region, 19,396 genes) and sequencing was carried out using the GenapSys™ Sequencer. Sequencing data were down-sampled to different mean coverage levels: 100x, 50x, 30x, and 10x. Sequencing reads were aligned to the hg38 reference genome using BWA MEM (v0.7.17). The variants were called using Google's DeepVariant trained on GenapSys sequencing data.

For variant calling analysis and results, see our Variant Calling Application Note

The following files are included:

  • GenapSys_NA12878_IDT_Exome_100X.fastq.gz : The down-sampled GenapSys Exome sequencing data (100X).

  • IDT_xGenExomePanelTargets_HG38.bed : This is the IDT xGen Exome Panel Targets bed file converted to HG38 coordinates.

  • SNP_NA12878_GenapSys_IDT_ExomePanel_HighConfidenceRegions.vcf

  • INDEL_NA12878_GenapSys_IDT_ExomePanel_HighConfidenceRegions.vcf