This file is from: http://hgdownload.soe.ucsc.edu/goldenPath/hg38/vsSelf/README.txt This directory contains alignments of Human (hg38, Dec. 2013, GRC Build GRCh38) to itself, primary chromosomes only 1-22,X,Y,M Files included in this directory: - md5sum.txt: md5sum checksums for the files in this directory - hg38.hg38.all.chain.gz: chained lastz alignments. The chain format is described in http://genome.ucsc.edu/goldenPath/help/chain.html . The hg38 assembly was aligned to itself by the lastz (v1.03.52) alignment program, which is available from Webb Miller's lab at Penn State University (http://www.bx.psu.edu/miller_lab/). Any hg38 sequences larger than 20,000,000 bases were split into chunks of 20,010,000 bases overlapping by 10,000 bases for alignment. The query sequence, hg38, was split into chunks of 20,000,000 overlapping by 0. Following alignment, the coordinates of the chunk alignments were corrected by the blastz-normalizeLav script written by Scott Schwartz of Penn State. The lastz scoring matrix (Q parameter) used was the default lastz matrix: A C G T A 91 -114 -31 -123 C -114 100 -125 -31 G -31 -125 100 -114 T -123 -31 -114 91 with a gap open penalty of O=400, a gap extension penalty of E=30, --x_drop X=910, --y_drop Y=9400, --hsp_threshold K=3000, --gapped_threshold L=3000 --inner H=2000, T=1 (--seed=12of19 1110100110010101111 --transition), --step Z=1 The .axt format lastz output was translated to the .psl format with axtToPsl | pslDropOverlap to remove alignments of sequences to themselves, then chained by the axtChain program. Chain minimum score: 10000, and linearGap matrix of (medium): tableSize 11 smallSize 111 position 1 2 3 11 111 2111 12111 32111 72111 152111 252111 qGap 350 425 450 600 900 2900 22900 57900 117900 217900 317900 tGap 350 425 450 600 900 2900 22900 57900 117900 217900 317900 bothGap 750 825 850 1000 1300 3300 23300 58300 118300 218300 318300 All programs run after lastz were written by Jim Kent at UCSC. ---------------------------------------------------------------- To download a large file or multiple files from this directory, we recommend that you use ftp rather than downloading the files via our website. To do so: ftp hgdownload.cse.ucsc.edu user name: anonymous password: go to the directory goldenPath/hg38/vsSelf To download multiple files from the UNIX command line, use the "mget" command. mget ... - or - mget -a (to download all the files in the directory) Use the "prompt" command to toggle the interactive mode if you do not want to be prompted for each file that you download. All files in this directory are freely available for public use. -------------------------------------------------------------------- References Harris, R.S. (2007) Improved pairwise alignment of genomic DNA Ph.D. Thesis, The Pennsylvania State University Chiaromonte, F., Yap, V.B., and Miller, W. Scoring pairwise genomic sequence alignments. Pac Symp Biocomput 2002, 115-26 (2002). Kent, W.J., Baertsch, R., Hinrichs, A., Miller, W., and Haussler, D. Evolution's cauldron: Duplication, deletion, and rearrangement in the mouse and human genomes. Proc Natl Acad Sci USA 100(20), 11484-11489 (2003). Schwartz, S., Kent, W.J., Smit, A., Zhang, Z., Baertsch, R., Hardison, R., Haussler, D., and Miller, W. Human-mouse alignments with BLASTZ. Genome Res. 13(1), 103-7 (2003). --------------------------------------------------------------------