NA12878 WES Benchmark dataset

This dataset makes available the UCSC Genome Browser (genome.ucsc.edu) GRCh37 genome build public session NA12878 WES Benchmark files in a single dataset so that these files can be used in other applications or genome browsers such as IGV.  All  genomic variant calls in  all VCF files were decomposed and normalized with vt. This dataset contains: 

Genome in a bottle (GIAB) version 3.3.2 high confidence (HC)  variant calls and genomic regions for HapMap individual NA12878 :

GIAB_v3.3.2_NA12878-decomposed-normalized.vcf.gz

GIAB_v3.3.2_NA12878-decomposed-normalized.vcf.gz.tbi

GIAB_v3.3.2_NA12878_HC_regions.bed

HapMap individual NA12878 WES variant calls (VCF) and capture regions (BED) from diagnostic laboratories :

ARUP whole exome sequencing data (HiSeq 2000) publically available from NCBI GeT-RM Browser

converted_ARUP_NA12878_Exome-decomposed-normalized.vcf.gz

converted_ARUP_NA12878_Exome-decomposed-normalized.vcf.gz.tbi

 ARUP_SeqCap_EZ_Exome.bed

UCSF whole exome sequencing data (HiSeq 2500) publically available from NCBI GeT-RM Browser

converted_UCSF_NA12878_WES_Agilent_V4_Custom-decomposed-normalized.vcf.gz

converted_UCSF_NA12878_WES_Agilent_V4_Custom-decomposed-normalized.vcf.gz.tbi

UCSF_WES_Agilent_V4_Custom.bed

Whole exome data (NextSeq 500) sequenced in CHEO diagnostic laboratory

CHEO_NA12878_WES_S1dataset.vcf.gz

CHEO_NA12878_WES_S1dataset.vcf.gz.tbi

Agilent_CRE_v2.bed

Genomic coordinates (BED) of OMIM genes for which a molecular basis of the associated disease is known (as of September 2019) :

Omim_Genes.bed