Complete Genomics README NCBI, December 2012. Samples analyzed by Complete Genomics are delivered to the project with a set of reports and analysis files distinct from those constructed by current Consortium workflows. Most of the files and md5s are listed in a series of index files found under ftp/complete_genomics_indices This contains 4 files for the most recent release 20130820.cg_data.index This lists the relative path and md5 for all the bam, vcf and supporting tar files available for this release of data 20130725.cg_data.untar.index This lists the contents and md5s of the untared supporting tar files 20130815.cg_ref_data.index This lists the contents and md5s of all the ref directories 20130725.sra.index This lists the relative path at the SRA to get cSRA files which contain all the CG data from the NCBI You need to associate the SRA relative paths with one of 3 root urls depending on how you want to get the data http://ftp-trace.ncbi.nlm.nih.gov/sra/sra-instant/reads/ByRun/sra/SRR/ ftp://ftp-trace.ncbi.nlm.nih.gov/sra/sra-instant/reads/ByRun/sra/SRR/ fasp://anonftp@ftp-trace.ncbi.nlm.nih.gov/sra/sra-instant/reads/ByRun/sra/SRR/ The last url will use the aspera connect plugin which you can get from http://asperasoft.com/software/transfer-clients/connect-web-browser-plug-in/ The run level meta data is also found in the sequence index directory in a file called CompleteGenomics.sequence.index Each CG processed sample will provide the following data elements in the cannonical path /ftp/data/[sample ID]/cg_data/: 1. Alignment of evidence intervals to the reference in BAM format. Files are named "EvidenceOnly". 2. Alignment of evidence intervals to thereference with supporting reads in BAM format. Files are named "EvidenceSupporting". 3. Integrated VCF file containing sample genotypes for SNPs, indels, structural variants, and mobile insertion elements. 4. The Complete Genomics set of production reports as tarball. This is the entire ASM directory less REF and EVIDENCE subdirectories. 5. The Complete Genomics REF directory NOTES: 1. The full set of alignment data is available as SRA objects where reference chromosomes and bait sequences have been resolved to their appropriate NCBI accessions. This object includes all primary alignments of reads to reference and unaligned reads. It can be downloaded from SRA and extracted to SAM, FASTQ and other formats using the SRA toolkit. See http://www.ncbi.nlm.nih.gov/books/NBK47540/#SRA_Download_Guid_B.Reference_Compressio for further information on using the SRA toolkit to access alignment data in native reference compression(cSRA) format. You can find the paths from the sra.index file above 2. Secondary mappings of reads with MAPQ=0, having more than 8 placements to the reference, are not preserved. The reads themselves are available in FASTA format from SRA via toolkit services (see Note 1). Short sequence motifs with degenerate placement on the reference assembly are a partial manifestation of the reference genome itself hashed as 35-mers. To provide a comprehensive view of local complexity, the complete reference assembly has been hashed, and a table prepared with the following columns: 1) chromosome accession.version, (2) position, (3) unique k-to-the-left, (4)unique k-to-the-right. Columns 3 and 4 thus provide the minimum sequence lengths required to make postion (2) unique in the genome. This table is available at ftp://ftp.1000genomes.ebi.ac.uk/vol1/ftp/technical/reference/GRCh37_refseq.kmer.txt.gz 3. The alignments are based on the reference sequence which can be found in ftp://ftp.1000genomes.ebi.ac.uk/vol1/ftp/technical/reference/cg_alignment_reference/ Supplemental reports and Ref files can also be found in the appropriate directories and as tarballs in the cg_data directories The contents of these directories are SUPPLEMENTAL REPORTS IN ASM According to the Complete Genomics FAQ, http://www.completegenomics.com/FAQs/Data-Results/, each genome analyzed by the Assembly Pipeline version 2.2 will include the following files in the ASM tarball: SHORT NAME FILE NAME(S) CONTENT Summary summary-* Summary statistics file All called small variants, VCF vcfBeta-* CNVs, SVs, and MEIs in VCF Variant var-* All called small variants file Master All called small variants and Variation masterVarBeta-* associated annotations file Gene gene-* Small variants in genes annotations dbSNP dbSNPAnnotted-* Sequence for all dbSNP sites annotations Gene geneVarSummary-* Summary of small variants in summary genes Non-coding ncRNA-* All small variants in known RNA annotations microRNAs CNV files cnvSegmentsDiploidBeta-*, Copy number segmentation in ASM/CNV cnvSegmentsNondiploidBeta-*, results cnvDetailsDiploidBeta-*, cnvDetailsNondiploidBeta-*, and depthOfCoverage_100000-* SV files allJunctionsBeta-*, All called junctions, in ASM/SV highConfidenceJunctionsBeta-*, structural variation events, evidenceJunctionDnbBeta-*, and and alignments of evidence evidenceJunctionClustersBeta-*, DNBs allSvEventsBeta-*, highConfidenceSvEventsBeta-* MEI files mobileElementInsertionsBeta-*, All called mobile element in ASM/MEI mobileElementInsertionsROCBeta-*, insertion events detected mobileElementInsertionsRefCountsBeta-* Reports in circos-*, circosLegend-* coverage-* Coverage quality ASM/ coverageByGcContent-*, characteristics for whole REPORTS coverageCoding-*, genome and exome, and coverageByGcContentCoding-*, length distribuution of indelLength-*, and called indels and substitutionLength-* substitutions We also extract the coverageRef files and put them in their own tarball and directory Coverage and Reference Score coverageRefScore-* Values for each position in the reference genome by chromosome