# This file contains information on how to process reference data sets. # # dataset - name of data set, this label will be printed. # type - Truth set (Truth) and False set (False) # overlap percentages labeled as (Precision, Sensitivity) and (False Discovery Rate, Type I Error) respectively # - cds_annotation # file is used for GENCODE annotation of frame shift and non frame shift Indels # filter - filter applied to variants for this particular data set # path - path of indexed BCF file # # Please do not change order of data set. profile_na12878 assumes this order. # #dataset type filter path broad.kb BroadKB VTYPE==INDEL&&N_ALLELE==2 /net/fantasia/home/atks/ref/vt/grch37/NA12878.broad.kb.snps.indels.complex.genotypes.bcf broad.kb.nondust BroadKB VTYPE==INDEL&&N_ALLELE==2&&~INFO.DUST /net/fantasia/home/atks/ref/vt/grch37/NA12878.broad.kb.snps.indels.complex.genotypes.bcf broad.kb.dust BroadKB VTYPE==INDEL&&N_ALLELE==2&&INFO.DUST /net/fantasia/home/atks/ref/vt/grch37/NA12878.broad.kb.snps.indels.complex.genotypes.bcf illumina.platinum Truth PASS&&VTYPE==INDEL&&N_ALLELE==2 /net/fantasia/home/atks/ref/vt/grch37/NA12878.illumina.platinum.snps.indels.complex.genotypes.bcf illumina.platinum.nondust Truth PASS&&VTYPE==INDEL&&N_ALLELE==2&&~INFO.DUST /net/fantasia/home/atks/ref/vt/grch37/NA12878.illumina.platinum.snps.indels.complex.genotypes.bcf illumina.platinum.dust Truth PASS&&VTYPE==INDEL&&N_ALLELE==2&&INFO.DUST /net/fantasia/home/atks/ref/vt/grch37/NA12878.illumina.platinum.snps.indels.complex.genotypes.bcf gencode.v19 cds_annotation . /net/fantasia/home/atks/ref/vt/grch37/gencode.v19.cds.bed.gz dust cplx_annotation . /net/fantasia/home/atks/ref/vt/grch37/mdust.bed.gz rmsk repeat_annotation . /net/fantasia/home/atks/ref/vt/grch37/rmsk.bed.gz