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Indels phasing issue #138
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Here is also examples of blocks which have variants with the same start position, which are not supposed to be phased. BLOCK: offset: 1468 len: 2 phased: 2 SPAN: 0 fragments 123 BLOCK: offset: 1520 len: 2 phased: 2 SPAN: 0 fragments 38 BLOCK: offset: 12510 len: 2 phased: 2 SPAN: 0 fragments 40 BLOCK: offset: 15757 len: 2 phased: 2 SPAN: 0 fragments 27 BLOCK: offset: 2339 len: 2 phased: 2 SPAN: 0 fragments 43 BLOCK: offset: 1037 len: 2 phased: 2 SPAN: 0 fragments 48 |
There is some doubt about the phasing quality of the indels. In the image below, three different deletions are shown, and they overlap. When running HapCUT, it appears that these variants are phased together, even though it is clearly visible here that they are on different reads. Is it supposed to be like this?
Block from output txt file
BLOCK: offset: 15094 len: 3 phased: 3 SPAN: 295 fragments 90
15094 0 1 chr16 28902022 TACA T 0/1:336:336:252,254:51,52:39,38:319.85:1.26:0:0 0 . 100.00 4
15095 0 1 chr16 28902316 CCG C 0/1:164:164:149,150:8,8:9,9:165.64:2.31:0:0.01 0 . 100.00 90
15096 0 1 chr16 28902317 CG C 0/1:154:154:149,150:8,8:7,7:165.12:2.35:0:0.01 0 . 100.00 90
Code Example
extractHAIRS --VCF input_vcf --bam input_bam --out fragment_file --ref ref_fasta --indels 1
HAPCUT2 --fragments fragment_file --VCF input_vcf --output output_hapcut
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