Content of the Reference Library provided with WGS Extract v4 Installation: You can relocate the library (this folder) with a setting inside the program. It is often helpful to move the folder and its content before setting a new location in the program. The installer will also pick up on this relocated setting and act accordingly. The majority of space will be taken up by the Reference Genomes; none of which are installed until you request it in the Library.*** manager script. Liftover Chain file (ucsc.edu, T2T): -- used by Liftover in the Microarray generator when starting with a Build 38 model BAM * hg38ToHg19.over.chain.gz (and corresponding .gzi index file) * chm13v2-{grch38, hg19}.chain for T2T chm13v2 to Build38 and 37 * {grch38m hg19}-chm13v2.chain for Build 38 / 37 to T2T chm13v2 Y Chromosome SNPs file (yBrowse.org): -- used by Y DNA VCF file generator * snps_hg38.vcf.gz, snps_grch38.vcf.gz -- Build 38 files in chrN and N nomenclature; respectively * snps_hg19.vcf.gz, snps_grch38.vcf.gz -- Build 37 files in chrN and N nomenclature; respectively (and corresponding .gzi and .tbi index files) (note: original hg19 had some errors and had not been updated since 2017. Now corrected. Original left here with added .orig suffix) Exome BED Files for determing WES regions (): -- Original TruSeq from Illumina for Build 37: https://support.illumina.com/downloads/truseq-exome-product-files.html Build38 form converted from TruSeq by BioBank: https://biobank.ndph.ox.ac.uk/ukb/refer.cgi?id=3803 * TruSeq_Exome_TargetedRegions_v1.2.bed -- Build 37 chrN nomenclature * TruSeq_Exome_TargetedRegions_v1.2_GRCh.bed -- Build 37 N nomenclature * xgen_plus_spikein.GRCh38.bed, xgen_plus_spikein.GRCh38.GRCh.bed -- Build 38 chrN and N nomenclature Y Chromosome BED files (with mito added): -- for use in the WES buttons on Y-only (or Y and MT only) BAM files. We use the Phylogenetic Tree of Haplogroup communiy regions BED instead of the Y Exome BED. Original is from a spreadsheet of HG38 regions created by David Vance from various sources (Ian McDonalds paper, yFull data, FTDNA data). See the user manual for more details. * BigY3_hg*.bed - various Y BED files specific to FTDNA BigY-700 test * CombBED_McDonald_Poznik_Merged_hg*.bed - various BED files as mentioned above; as created from David Vance's spreadsheet Genomes Seed definition file: --- copied into Genomes/ on first use. Used by Library and get_and_process_refgenome.sh scripts * seed_genomes.csv Genomes/: -- Starts as an empty folder. Filled by Library.*** command and Ref Genome Library scripts in scripts/: * process_refgenomes.sh -- sript to index any available reference genomes (called by get_and_process_refgenomes.sh) * compare_refgenomes.sh -- script to compare two reference genomes based on extracted stats * get_and_process_refgenome.sh -- script to individually download and process each reference genome for use in the program. Called by the Library.* tool and the WGS Extract program itself. * bwa-kit-gen-ref.sh -- modified (updated, corrected) script from bwa-kit to make 1K Genome project reference models (aka hsxxxx) Microarray/: -- All Variants file to create CombinedKit from BAM; one for each build and naming style -- Microarray RAW file templates for headers and bodies to target generating microarray files -- Ploidy definition file