| 39 | |
| 40 | As for the reference genome, any reference that contains every autosomal chromosome once should do. Such a reference can be built by downloading every chromosome from UCSC and concatenating them into a single fasta file:[[BR]] |
| 41 | [http://hgdownload-test.cse.ucsc.edu/goldenPath/hg19/chromosomes/] |
| 42 | |
| 43 | Also, to map your reads and produce a .bam file, we suggest using BWA:[[BR]] |
| 44 | [http://bio-bwa.sourceforge.net/] |
| 45 | |
| 46 | To read the produced .bam file we use SAMtools, which can be obtained here: |
| 47 | [http://samtools.sourceforge.net/] |