lh3 / bwa

Burrow-Wheeler Aligner for short-read alignment (see minimap2 for long-read alignment)
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bwa-mem aligned reads into a gap #225

Open zhangrengang opened 6 years ago

zhangrengang commented 6 years ago

The below is two examples, one within a gap and one neighbored to a gap:

$ samtools tview mapped.bam.rg.bam -p chr10:22690835 --reference ref.fa
      22690841  22690851  22690861  22690871  22690881  22690891  22690901
nnnnnnnnnnnnnnnnnnnnnnnnnnnnnnnnnnnnnnnnnnNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN
                     CCTTTATTGATCGCACTAGCT
                     CCTTTATTGATCGCACTAGCT
                     cctttattgatcgcactagct
$ samtools view mapped.bam.rg.bam chr10:22690856 |less
E00500:171:HHYL3CCXY:1:2219:3934:66918  99      chr10   22690856        49      95S21M35S       =       22690856        21      AGAACTTGCCCGCTTTGTGAGCTTTCGTAAAGTCTAGATCATCCACATCCAATGGTGAGCTACCACCTTGAGCCGGACTAGCGACCATACAAATCCCTTTATTGATCGCACTAGCTTCCGTCAAAAGATAAGCCAAACCAAATCGAGAAAG AAFFFJJJJJJJJJJJJJJJJJJJFJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJFJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJ XA:Z:chr12,+27251816,87S19M45S,0;       MC:Z:5S21M124S  MD:Z:21 RG:Z:SR NM:i:0  AS:i:21 XS:i:19
E00500:171:HHYL3CCXY:1:2219:3934:66918  147     chr10   22690856        52      5S21M124S       =       22690856        -21     AAATCCCTTTATTGATCGCACTAGCTTCCGTCAAAAGATAAGCCAAACCAAATCGAGAAAGACATTGTACTGCAAACCCACCTTCTACTGGCACAGAAGAGTCCGCAGGAGGCTTCAACTTTCCAGTAGGTGGTCCACCTTGAGTTTGAA  FAFFJJJJJJJJJJJJJJJJJJJJJJFJJJFJJJJJJJJJFJJJFJFJJAFFJJJJJJ<JJAJJJJJJJJJJJJJJJJJ<JJJFJJJJAJJJJJJJJJFJJJJJJJJJJJJJJJJJJJJJJFJJJJJJJJJJJJJJJJJJJJJJJJFFFA  MC:Z:95S21M35S  MD:Z:21 RG:Z:SR NM:i:0  AS:i:21 XS:i:0

$ samtools tview mapped.bam.rg.bam -p chr10:22691030 --reference ref.fa
22691031  22691041  22691051  22691061  22691071  22691081  22691091
nnnnnnnnnnnnnntgtgtgcggctaacccttgtaactgagcagttaactgagcaatatgatcagcttgggcctgatgct
             A..................................................................
             A..................................................................
             A..................................................................
             A..................................................................
              ..................................................................
              ..................................................................
              ..................................................................
              ,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
$ samtools view mapped.bam.rg.bam chr10:22691030 |less
E00500:171:HHYL3CCXY:1:2117:27255:51096 163     chr10   22691043        59      151M    =       22691098        206     ATGTGTGCGGCTAACCCTTGTAACTGAGCAGTTAACTGAGCAATATGATCAGCTTGGGCCTGATGCTCCCCCTGGCCCTCTGCAGCAGGTGCAGGCTGTTCCTCTGGAGGAGCAGCAGCAAGAGGCACATGAAGAAGATGTGCAGAAGATT AAFFFFJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJFJJJJFJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJ XA:Z:chr08,-14289051,151M,2;    MC:Z:151M       MD:Z:0C150      RG:Z:SR NM:i:1  AS:i:150        XS:i:141
E00500:171:HHYL3CCXY:1:2117:26890:51658 163     chr10   22691043        59      151M    =       22691098        206     ATGTGTGCGGCTAACCCTTGTAACTGAGCAGTTAACTGAGCAATATGATCAGCTTGGGCCTGATGCTCCCCCTGGCCCTCTGCAGCAGGTGCAGGCTGTTCCTCTGGAGGAGCAGCAGCAAGAGGCACATGAAGAAGATGTGCAGAAGATT AAFAFJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJJFJJJJJJJJJJJJJJJFJJJJJJJJJJFJJJJJJJJJJFJJJJJJJJJJJJJJJJJJJJJJJJJFJJJJJJJJAJJ XA:Z:chr08,-14289051,151M,2;    MC:Z:151M       MD:Z:0C150      RG:Z:SR NM:i:1  AS:i:150        XS:i:141
E00500:171:HHYL3CCXY:1:2117:26474:51992 163     chr10   22691043        59      151M    =       22691098        206     ATGTGTGCGGCTAACCCTTGTAACTGAGCAGTTAACTGAGCAATATGATCAGCTTGGGCCTGATGCTCCCCCTGGCCCTCTGCAGCAGGTGCAGGCTGTTCCTCTGGAGGAGCAGCAGCAAGAGGCACATGAAGAAGATGTGCAGAAGATT AAFFFJFJJAJ-FJJJFJJJJJJJFJJJFF<JJ-JJJJFJJFFF<JJJJJJJJFJFJ-<JAA<FJJFJJJJJJJJFJJ<JJFJFJJFJFJF<7FJJJJJ<AJA<<FFAFJFFJJJJJJAJFJJJJJ<A-7AFJJFFJFJJJJJAFF7FFFA XA:Z:chr08,-14289051,151M,2;    MC:Z:151M       MD:Z:0C150      RG:Z:SR NM:i:1  AS:i:150        XS:i:141

The version is 0.7.17-r1188 and the command is

bwa mem ref.fa R1.fastq.gz R2.fastq.gz -t 8