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License: MIT License
Graph-based Finding of Individual Motif Occurrences
License: MIT License
@ManuelTgn: You mentioned not being able to find some reference kmers in the vg find
output, but I'm not able to reproduce this.
Here's my test, based on the sequences you gave me: missing_sequences.txt
wget https://hgdownload.cse.ucsc.edu/goldenpath/hg38/chromosomes/chr22.fa.gz
gunzip chr22.fa.gz
tabix -h ftp://ftp.1000genomes.ebi.ac.uk/vol1/ftp/data_collections/1000_genomes_project/release/20190312_biallelic_SNV_and_INDEL/ALL.wgs.shapeit2_integrated_snvindels_v2a.GRCh38.27022019.sites.vcf.gz 22 >22.vcf
cat 22.vcf | awk 'BEGIN {OFS="\t"} { if (/^#/) { print } else { $1="chr22"; print } }' | bgzip >chr22.vcf.gz
vg construct -R chr22 -r chr22.fa -v chr22.vcf.gz -p >chr22.vg
vg index -x chr22.xg chr22.vg
Then, I check to see if each of the sequences in the file is in the results if I were to run the query for that region using vg find.
cat missing_sequences.txt \
| grep '^sequence_name\|matched' \
| paste - - \
| awk '{ print $2, $4}' \
| tr 'gtac' 'GTAC' \
| tr ' ' '\t' \
| while read x;
do
r=$(echo $x | cut -f 1 | sed s/C/c/)
s=$(echo $x | cut -f 2)
echo $r: $(vg find -x chr22.xg -p $r -K 19 -E | grep $s)
done
I get a result for each one, suggesting that they're not missing at all.
chr22:22464024-22464441: chr22:22464024-22464441 TTTCCACTAGGTGGCGCTG chr22:22464226+ chr22:22464245+ ref 1109741+,1109743+,1109744+,
chr22:20564175-20564879: chr22:20564175-20564879 GCTCCAGCAGGTGGCGCTG chr22:20564459+ chr22:20564478+ ref 937607+,937608+,
chr22:24938879-24939040: chr22:24938879-24939040 TTTCCAGCAGATGGCAGTA chr22:24938941+ chr22:24938960+ ref 1375453+,1375454+,
chr22:46758921-46759044: chr22:46758921-46759044 CCTCCAGAAGGGGGCAGCC chr22:46758977+ chr22:46758996+ ref 3671802+,3671804+,3671805+,
chr22:49979714-49979878: chr22:49979714-49979878 TGACCACTAGGTGGTGCAC chr22:49979775+ chr22:49979794+ ref 4079471+,4079473+,4079474+,
chr22:49767389-49767601: chr22:49767389-49767601 TCGGCACTAGAGGGCAACA chr22:49767473+ chr22:49767492+ ref 4054526+,4054527+,
chr22:39437133-39437557: chr22:39437133-39437557 GAACCGGTAGGGGGAGCTG chr22:39437362+ chr22:39437381+ ref 2883926+,2883928+,2883929+,
chr22:32206911-32207335: chr22:32206911-32207335 GTGCCAGGAGGAGGAGCCA chr22:32207166+ chr22:32207185+ ref 2110545+,2110547+,2110548+,
chr22:32776128-32776241: chr22:32776128-32776241 GAGCCTCTAGAGGGAGCAC chr22:32776187+ chr22:32776206+ ref 2172648+,2172650+,2172651+,2172653+,
chr22:20564175-20564879: chr22:20564175-20564879 GCAGCAGCAGGCGGCGCTA chr22:20564510+ chr22:20564529+ ref 937611+,937612+,
chr22:36977427-36977656: chr22:36977427-36977656 CTCCCTCACGGGGGCGCTG chr22:36977511+ chr22:36977530+ ref 2625316+,2625318+,2625319+,
chr22:35538794-35539218: chr22:35538794-35539218 TTGCCACCAGGTGACTTTG chr22:35538972+ chr22:35538991+ ref 2472472+,2472474+,2472475+,2472477+,2472478+,
chr22:31872398-31872557: chr22:31872398-31872557 TTTTCACATGGGGGCGCTG chr22:31872460+ chr22:31872479+ ref 2077748+,2077749+,2077751+,2077752+,
chr22:29772243-29772667: chr22:29772243-29772667 TGGCCACTGTGAGGCACTG chr22:29772445+ chr22:29772464+ ref 1873108+,
chr22:19632120-19632551: chr22:19632120-19632551 CCACCGCTAGAGGGGGCAT chr22:19632371+ chr22:19632390+ ref 839100+,839102+,839103+,
chr22:20772085-20772509: chr22:20772085-20772509 CATGCAGTAGGTGTAACTG chr22:20772149+ chr22:20772168+ ref 959891+,959892+,
chr22:46758921-46759044: chr22:46758921-46759044 GAACCTCCAGAAGGGGGCA chr22:46758974+ chr22:46758993+ ref 3671801+,3671802+,3671804+,3671805+,
chr22:41926125-41926236: chr22:41926125-41926236 CAGCAGCGCGGGGGCGCCA chr22:41926212+ chr22:41926231+ ref 3123060+,3123061+,
chr22:30255852-30256391: chr22:30255852-30256391 GAGCCTCTGGGAGGAGGAA chr22:30256283+ chr22:30256302+ ref 1919274+,1919276+,1919277+,
Note that I'm converting them to upper case, but they are in lower case or partly lower case in the file you gave me. Could that be the issue?
Do you think it'd be a good idea to build vg in the dockerfile? It might make the whole pipeline reproducible.
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