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akiomiyao/ped

By akiomiyao

•Updated 12 months ago

DNA polymorphism detector from NGS data

Image
Data science
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1.3K

akiomiyao/ped repository overview

⁠Polymorphic Edge Detection - An efficient polymorphism detector for NGS data

The PED is a unique detection system of DNA polymorphism (mutation) from sequence data generated by next-generation sequencer.

⁠Usage
docker run -w /ped -v /home/your_account/your_working_directory:/work akiomiyao/ped perl download.pl accession=accession,wd=/work  
docker run --init -w /ped -v /home/your_account/your_working_directory:/work akiomiyao/ped perl ped.pl target=target,control=control,ref=reference,wd=/work  

Free of use for academics.
Please read README.md in the ped directory or access to https://github.com/akiomiyao/ped⁠
Citation : Miyao, A., Kiyomiya, J.S., Iida, K. et al. Polymorphic edge detection (PED): two efficient methods of polymorphism detection from next-generation sequencing data.
BMC Bioinformatics 20, 362 (2019). https://doi.org/10.1186/s12859-019-2955-6⁠

⁠Demonstration

Update docker container.

mkdir ped
cd ped
mkdir work
docker pull akiomiyao/ped

Detection of mutations in SARS-CoV-2.
Download fastq files of SRR11513115.

docker run -w /ped -v `pwd`:/work akiomiyao/ped perl download.pl accession=SRR11513115,wd=/work

Detection

docker run --init -w /ped -v `pwd`:/work akiomiyao/ped perl ped.pl target=SRR11513115,ref=SARS-CoV-2,wd=/work

Detection of SNPs and structural variations between nematodes.
Download fastq files of ERR3063486 and ERR3063487 in NCBI/SRA. Downloading requires several hours.

docker run -w /ped -v `pwd`:/work akiomiyao/ped perl download.pl accession=ERR3063486,wd=/work  
docker run -w /ped -v `pwd`:/work akiomiyao/ped perl download.pl accession=ERR3063487,wd=/work  

Detection of SNPs and structural variations between ERR3063486 and ERR3063487.

docker run --init -w /ped -v `pwd`:/work akiomiyao/ped perl ped.pl target=ERR3063487,control=ERR3063486,ref=WBcel235,wd=/work  

ERR3063487 sequences of Caenorhabditis elegans nematode are 250 generations after ERR3063486.

Results will be saved in the ERR3063487 directory.

File nameDescription
ERR3063487.alnBidirectional alignment
ERR3063487.bi.primerPrimer data for PCR
ERR3063487.bi.snpSNP data (original format)
ERR3063487.indexIndex file for alignment search
ERR3063487.logProcess log
ERR3063487.reportLog of ped.pl
ERR3063487.svStructural variation data
ERR3063487.sv.primerPrimer data for PCR
ERR3063487.vcfSNP and SV data (vcf format, for IGV)
ERR3063487.full.vcfSNP and SV data (vcf format, full output)
ERR3063487.count.vcfSNP and SV data (vcf format, full output with unverified data)
readDirectory for fastq files
sort_uniqDirectory for sort_uniq files

Tag summary

Content type

Image

Digest

sha256:ef94f7366…

Size

131.4 MB

Last updated

12 months ago

docker pull akiomiyao/ped