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, 11:51, 23 October 2014
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| === Human Reference Files === | | === Human Reference Files === |
| + | Reference Sequence in fasta format |
| + | {| class="wikitable" style="margin: 1em 1em 1em 0; background-color: #f9f9f9; border: 1px #aaa solid; border-collapse: collapse;" border="1" |
| + | ! Configuration Key !! Default Value |
| + | |- |
| + | | REF || $(REF_DIR)/human.g1k.v37.fa |
| + | |} |
| + | {| class="wikitable" style="margin: 1em 1em 1em 0; background-color: #f9f9f9; border: 1px #aaa solid; border-collapse: collapse;" border="1" |
| + | ! Pipeline !! Use |
| + | |- |
| + | | align || mapping to reference, recalibration, quality control |
| + | |- |
| + | | snpcall || pileup & identify variants, summarize filtered variants |
| + | |- |
| + | | indel || discovery, genotyping |
| + | |} |
| + | |
| + | All pipelines require additional files: |
| + | {| class="wikitable" style="margin: 1em 1em 1em 0; background-color: #f9f9f9; border: 1px #aaa solid; border-collapse: collapse;" border="1" |
| + | ! Step !! Required Extensions !! Command to Create |
| + | |- |
| + | |all || -bs.umfa || automatically created in same directory as REF file by GotCloud |
| + | |} |
| + | |
| + | |
| + | The alignment pipeline requires additional files: |
| + | {| class="wikitable" style="margin: 1em 1em 1em 0; background-color: #f9f9f9; border: 1px #aaa solid; border-collapse: collapse;" border="1" |
| + | ! Step !! Required Extensions !! Command to Create |
| + | | bwa mapping || .amb, .ann, .bwt, .pac, .sa || bin/bwa index ref.fa |
| + | |- |
| + | | qplot || .fa.GCcontent |
| + | |} |
| + | |
| | | |
| === DBSNP VCF File === | | === DBSNP VCF File === |
| | | |
− | === === | + | === HapMap3 Polymorphic Sites VCF File === |
| + | |
| + | === INDEL VCF File(s) === |
| + | |
| + | === OMNI VCF File === |
| | | |
| = Downloadable Reference and Resource Files = | | = Downloadable Reference and Resource Files = |