made the header smaller
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@ -6,7 +6,7 @@ ALT-aware mode, users need to provide pairwise ALT-to-reference alignment in the
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SAM format and rename the file to ""*idxbase*.alt". For GRCh38, this alignment is
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SAM format and rename the file to ""*idxbase*.alt". For GRCh38, this alignment is
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available from the [BWA resource bundle for GRCh38][res].
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available from the [BWA resource bundle for GRCh38][res].
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### Option 1: Mapping to the official GRCh38 with ALT contigs
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#### Option 1: Mapping to the official GRCh38 with ALT contigs
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Construct the index:
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Construct the index:
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```sh
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```sh
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@ -27,7 +27,7 @@ bwa mem hs38a.fa read1.fq read2.fq \
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For short reads, the postprocessing script `bwa-postalt.js` runs at about the
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For short reads, the postprocessing script `bwa-postalt.js` runs at about the
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same speed as BAM compression.
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same speed as BAM compression.
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### Option 2: Mapping to the collection of GRCh38, decoy and HLA genes
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#### Option 2: Mapping to the collection of GRCh38, decoy and HLA genes
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Construct the index:
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Construct the index:
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```sh
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```sh
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@ -68,7 +68,7 @@ implementation encourages researchers to use ALT contigs soon and often.
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As of now, ALT mapping is done in two separate steps: BWA-MEM mapping and
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As of now, ALT mapping is done in two separate steps: BWA-MEM mapping and
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postprocessing.
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postprocessing.
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### Step 1: BWA-MEM mapping
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#### Step 1: BWA-MEM mapping
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At this step, BWA-MEM reads the ALT contig names from "*idxbase*.alt", ignoring
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At this step, BWA-MEM reads the ALT contig names from "*idxbase*.alt", ignoring
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the ALT-to-ref alignment, and labels a potential hit as *ALT* or *non-ALT*,
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the ALT-to-ref alignment, and labels a potential hit as *ALT* or *non-ALT*,
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@ -92,7 +92,7 @@ If we don't care about ALT hits, we may actually skip postprocessing (step 2).
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Nonetheless, postprocessing is recommended as it improves mapQ and gives more
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Nonetheless, postprocessing is recommended as it improves mapQ and gives more
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information about ALT hits.
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information about ALT hits.
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### Step 2: Postprocessing
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#### Step 2: Postprocessing
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Postprocessing is done with a separate script `bwa-postalt.js`. It reads all
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Postprocessing is done with a separate script `bwa-postalt.js`. It reads all
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potential hits reported in the XA tag, lifts ALT hits to the chromosomal
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potential hits reported in the XA tag, lifts ALT hits to the chromosomal
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