%global _empty_manifest_terminate_build 0 Name: python-HiNT-Package Version: 2.2.8 Release: 1 Summary: HiNT -- HiC for copy number vairations and translocations detection License: MIT License URL: https://github.com/suwangbio/HiNT_py3 Source0: https://mirrors.aliyun.com/pypi/web/packages/ff/a1/f1d40fad4546763d4df8b02aea3d07454d55a865c418c8163b1b124cbb6b/HiNT-Package-2.2.8.tar.gz BuildArch: noarch Requires: python3-h5py Requires: python3-numpy Requires: python3-cooler Requires: python3-pypairix Requires: python3-pairtools Requires: python3-scipy Requires: python3-pandas Requires: python3-scikit-learn Requires: python3-multiprocess Requires: python3-argparse Requires: python3-pytabix %description # HiNT ## A computational method for detecting copy number variations and translocations from Hi-C data ## Summary **HiNT** (**Hi**-C for copy **N**umber variation and **T**ranslocation detection), a computational method to detect CNVs and Translocations from Hi-C data. HiNT has three main components: **HiNT-PRE**, **HiNT-CNV**, and **HiNT-TL**. HiNT-PRE preprocesses Hi-C data and computes the contact matrix, which stores contact frequencies between any two genomic loci; both HiNT-CNV and HiNT-TL starts with HI-C contact matrix, predicts copy number segments, and inter-chromosomal translocations, respectively #### Overview of HiNT workflow: ## Installation ### Dependencies R and R packages 1. [R >= 3.4](https://www.r-project.org/) 2. [mgcv](https://cran.r-project.org/web/packages/mgcv/index.html), [strucchange](https://cran.r-project.org/web/packages/strucchange/index.html), [doParallel](https://www.rdocumentation.org/packages/parallel/versions/3.4.1), [Cairo](https://cran.r-project.org/web/packages/Cairo/index.html), [foreach](https://cran.r-project.org/web/packages/optparse/index.html) Python and Python packages 1. [python >= 3.5](https://www.python.org/) 2. [pyparix >= 0.3.0](https://github.com/4dn-dcic/pairix#pypairix), [cooler >= 0.7.4](https://github.com/mirnylab/cooler), [pairtools >= 0.2.2](https://github.com/mirnylab/pairtools), [numpy](https://www.scipy.org/install.html), [scipy](https://www.scipy.org/install.html), [pandas](https://pandas.pydata.org/), [sklearn](https://scikit-learn.org/stable/install.html), [multiprocessing](https://pypi.org/project/multiprocess/) Java and related tools (Optional: required when want to process Hi-C data with juicer tools) 1. [Java (version >= 1.7)](https://www.java.com/en/download/) 2. [Juicer tools (1.8.9 is recommended)](https://github.com/aidenlab/juicer/wiki/Download) Perl 1. [Perl (version >= 5)](https://www.perl.org/) Other dependencies 1. [samtools](http://www.htslib.org/doc/) (1.3.1+) 2. [BIC-seq2](http://www.math.pku.edu.cn/teachers/xirb/downloads/software/BICseq2/BICseq2/BICseq2-seg_v0.7.3.tar.gz) (0.7.3) ! This is optional: if you don't want to run HiNT-CNV, you don't need this package. [Download BICseq2, unzip it, and give the path of BICseq2-seg_v0.7.3 (/path/to/BICseq2-seg_v0.7.3)]. 3. [bwa](https://sourceforge.net/projects/bio-bwa/files/) (0.7.16+) ! This is optional: required only when your input is fastq 4. [tabix](https://sourceforge.net/projects/samtools/files/tabix/) (0.2.6) ### Install HiNT * Method1: Install using conda (highly recommended) ``` $ conda install -c su hint``` or ``` $ conda install hint``` * Method2: Install from PyPI using pip. ``` $ pip install HiNT-Packages``` * Method3: Install manually 1. Install HiNT dependencies 2. Download HiNT ```git clone https://github.com/parklab/HiNT.git``` 3. Go to HiNT directory, install it by ```$ python setup.py install ``` *** Type ```$ hint``` to test if HiNT successfully installed * Method 4: Run HiNT in a Docker container (highly recommended) ``` $ docker pull suwangbio/hint``` ``` $ docker run suwangbio/hint hint``` See details of the usage on HiNT page at [docker hub](https://hub.docker.com/r/suwangbio/hint) ### Download reference files used in HiNT [HERE](https://www.dropbox.com/sh/2ufsyu4wvrboxxp/AABk5-_Fwy7jdM_t0vIsgYf4a?dl=0) 1. Download HiNT references [HERE](https://www.dropbox.com/sh/qas48d7409t2syz/AACk5G2ngZ0vylLXsLFZXif_a?dl=0). Only hg19, hg38 and mm10 are available currently. Unzip it ```$ unzip hg19.zip ``` 2. Download HiNT background matrices [HERE](https://www.dropbox.com/sh/fyxx9u5g5vn57ez/AAAx-DtByKaU6HvTYyEUvCzRa?dl=0). Only hg19, hg38 and mm10 are available currently. Unzip it ```$ unzip hg19.zip ``` 3. Download BWA index files [HERE](https://www.dropbox.com/sh/l004df4108s6d3c/AAB6qtS95mBK_MdDZYlo2V-pa?dl=0). Only hg19, hg38 and mm10 are available currently. Unzip it ```$ unzip hg19.zip ``` ## Quick Start * Download the test datasets from [HERE](https://www.dropbox.com/sh/z1rceh8ddnsdtj7/AAC0VuDu48eh_RtzKHipztkLa?dl=0) ### HiNT-PRE HiNT pre: Preprocessing Hi-C data. HiNT pre does alignment, contact matrix creation and normalization in one command line. ```$ hint pre -d /path/to/hic_1.fastq.gz,/path/to/hic_2.fastq.gz -i /path/to/bwaIndex/hg19/hg19.fa --refdir /path/to/refData/hg19 --informat fastq --outformat cooler -g hg19 -n test -o /path/to/outputdir --pairtoolspath /path/to/pairtools --samtoolspath /path/to/samtools --coolerpath /path/to/cooler``` ```$ hint pre -d /path/to/test.bam --refdir /path/to/refData/hg19 --informat bam --outformat juicer -g hg19 -n test -o /path/to/outputdir --pairtoolspath /path/to/pairtools --samtoolspath /path/to/samtools --juicerpath /path/to/juicer_tools.1.8.9_jcuda.0.8.jar``` use ```$ which samtools ``` ```$ which pairtools ``` ```$ which cooler ``` to get the absolute path of these tools, and ```/path/to/juicer_tools.1.8.9_jcuda.0.8.jar``` should be the path where you store this file see details and more options ```$ hint pre -h ``` ### HiNT-CNV HiNT cnv: prediction of copy number information, as well as segmentation from Hi-C. ```$ hint cnv -m contactMatrix.cool -f cooler --refdir /path/to/refDir/hg19 -r 50 -g hg19 -n test -o /path/to/outputDir --bicseq /path/to/BICseq2-seg_v0.7.3 -e MboI``` ```$ hint cnv -m /path/to/4DNFIS6HAUPP.mcool::/resolutions/50000 -f cooler --refdir /path/to/refDir/hg38 -r 50 -g hg38 -n HepG2 --bicseq /path/to/BICseq2-seg_v0.7.3 -e DpnII``` ```$ hint cnv -m /path/to/4DNFICSTCJQZ.hic -f juicer --refdir /path/to/refDir/hg38 -r 50 -g hg38 -n HepG2 --bicseq /path/to/BICseq2-seg_v0.7.3 -e DpnII``` ```$ hint cnv -m /path/to/4DNFICSTCJQZ.hic -f juicer --refdir /path/to/refDir/hg38 -r 50 -g hg38 -n HepG2 --bicseq /path/to/BICseq2-seg_v0.7.3 -e DpnII --doiter``` ```/path/to/BICseq2-seg_v0.7.3``` should be the path where you store this package see details and more options ```$ hint cnv -h ``` ### HiNT-TL HiNT tl: interchromosomal translocations and breakpoints detection from Hi-C inter-chromosomal interaction matrices. ```$ hint tl -m /path/to/data_1Mb.cool,/path/to/data_100kb.cool --chimeric /path/to/test_chimeric.sorted.pairsam.gz --refdir /path/to/refDir/hg19 --backdir /path/to/backgroundMatrices/hg19 --ppath /path/to/pairix -f cooler -g hg19 -n test -o /path/to/outputDir``` ```$ hint tl -m /path/to/4DNFIS6HAUPP.mcool::/resolutions/1000000,/path/to/4DNFIS6HAUPP.mcool::/resolutions/100000 -f cooler --refdir /path/to/refDir/hg38 --backdir /path/to/backgroundMatrices/hg38 -g hg38 -n 4DNFICSTCJQZ -c 0.05 --ppath /path/to/pairix -p 12``` ```$ hint tl -m /path/to/4DNFICSTCJQZ.hic -f juicer --refdir /path/to/refData/hg38 --backdir /path/to/backgroundMatrices/hg38 -g hg38 -n 4DNFICSTCJQZ -c 0.05 --ppath /path/to/pairix -p 12 -o HiNTtransl_juicerOUTPUT``` use ```$ which pairix ``` to get the absolute path of pairix see details and more options ```$ hint tl -h ``` ## Output of HiNT ### HiNT-PRE output In the HiNT-PRE output directory, you will find 1. ```jobname.bam``` aligned lossless file in bam format 2. ```jobname_merged_valid.pairs.gz``` reads pairs in pair format 3. ```jobname_chimeric.sorted.pairsam.gz``` ambiguous chimeric read pairs used for breakpoint detection in [pairsam](https://github.com/mirnylab/pairtools) format 4. ```jobname_valid.sorted.deduped.pairsam.gz``` valid read pairs used for Hi-C contact matrix creation in [pairsam](https://github.com/mirnylab/pairtools) format 5. ```jobname.mcool``` Hi-C contact matrix in [cool](https://github.com/mirnylab/cooler) format 6. ```jobname.hic``` Hi-C contact matrix in [hic](https://github.com/aidenlab/juicer) format ### HiNT-CNV output In the HiNT-CNV output directory, you will find 1. ```jobname_GAMPoisson.pdf``` the GAM regression result 2. ```segmentation/jobname_bicsq_allchroms.txt``` CNV segments with log2 copy ratio and p-values in txt file 3. ```segmentation/jobname_resolution_CNV_segments.png``` figure to visualize CNV segments 4. ```segmentation/jobname_bicseq_allchroms.l2r.pdf``` figure to visualize log2 copy ration in each bin (bin size = resolution you set) 5. ```segmentation/other_files``` intermediate files used to run BIC-seq 6. ```jonname_dataForRegression/*``` data used for regression as well as residuals after removing Hi-C biases ### HiNT-TL output In the HiNT-TL output directory, you will find 1. ```jobname_Translocation_IntegratedBP.txt``` the final integrated translocation breakpoint 2. ```jobname_chrompairs_rankProduct.txt``` rank product predicted potential translocated chromosome pairs 3. ```otherFolders``` intermediate files used to identify the translocation breakpoints %package -n python3-HiNT-Package Summary: HiNT -- HiC for copy number vairations and translocations detection Provides: python-HiNT-Package BuildRequires: python3-devel BuildRequires: python3-setuptools BuildRequires: python3-pip %description -n python3-HiNT-Package # HiNT ## A computational method for detecting copy number variations and translocations from Hi-C data ## Summary **HiNT** (**Hi**-C for copy **N**umber variation and **T**ranslocation detection), a computational method to detect CNVs and Translocations from Hi-C data. HiNT has three main components: **HiNT-PRE**, **HiNT-CNV**, and **HiNT-TL**. HiNT-PRE preprocesses Hi-C data and computes the contact matrix, which stores contact frequencies between any two genomic loci; both HiNT-CNV and HiNT-TL starts with HI-C contact matrix, predicts copy number segments, and inter-chromosomal translocations, respectively #### Overview of HiNT workflow: ## Installation ### Dependencies R and R packages 1. [R >= 3.4](https://www.r-project.org/) 2. [mgcv](https://cran.r-project.org/web/packages/mgcv/index.html), [strucchange](https://cran.r-project.org/web/packages/strucchange/index.html), [doParallel](https://www.rdocumentation.org/packages/parallel/versions/3.4.1), [Cairo](https://cran.r-project.org/web/packages/Cairo/index.html), [foreach](https://cran.r-project.org/web/packages/optparse/index.html) Python and Python packages 1. [python >= 3.5](https://www.python.org/) 2. [pyparix >= 0.3.0](https://github.com/4dn-dcic/pairix#pypairix), [cooler >= 0.7.4](https://github.com/mirnylab/cooler), [pairtools >= 0.2.2](https://github.com/mirnylab/pairtools), [numpy](https://www.scipy.org/install.html), [scipy](https://www.scipy.org/install.html), [pandas](https://pandas.pydata.org/), [sklearn](https://scikit-learn.org/stable/install.html), [multiprocessing](https://pypi.org/project/multiprocess/) Java and related tools (Optional: required when want to process Hi-C data with juicer tools) 1. [Java (version >= 1.7)](https://www.java.com/en/download/) 2. [Juicer tools (1.8.9 is recommended)](https://github.com/aidenlab/juicer/wiki/Download) Perl 1. [Perl (version >= 5)](https://www.perl.org/) Other dependencies 1. [samtools](http://www.htslib.org/doc/) (1.3.1+) 2. [BIC-seq2](http://www.math.pku.edu.cn/teachers/xirb/downloads/software/BICseq2/BICseq2/BICseq2-seg_v0.7.3.tar.gz) (0.7.3) ! This is optional: if you don't want to run HiNT-CNV, you don't need this package. [Download BICseq2, unzip it, and give the path of BICseq2-seg_v0.7.3 (/path/to/BICseq2-seg_v0.7.3)]. 3. [bwa](https://sourceforge.net/projects/bio-bwa/files/) (0.7.16+) ! This is optional: required only when your input is fastq 4. [tabix](https://sourceforge.net/projects/samtools/files/tabix/) (0.2.6) ### Install HiNT * Method1: Install using conda (highly recommended) ``` $ conda install -c su hint``` or ``` $ conda install hint``` * Method2: Install from PyPI using pip. ``` $ pip install HiNT-Packages``` * Method3: Install manually 1. Install HiNT dependencies 2. Download HiNT ```git clone https://github.com/parklab/HiNT.git``` 3. Go to HiNT directory, install it by ```$ python setup.py install ``` *** Type ```$ hint``` to test if HiNT successfully installed * Method 4: Run HiNT in a Docker container (highly recommended) ``` $ docker pull suwangbio/hint``` ``` $ docker run suwangbio/hint hint``` See details of the usage on HiNT page at [docker hub](https://hub.docker.com/r/suwangbio/hint) ### Download reference files used in HiNT [HERE](https://www.dropbox.com/sh/2ufsyu4wvrboxxp/AABk5-_Fwy7jdM_t0vIsgYf4a?dl=0) 1. Download HiNT references [HERE](https://www.dropbox.com/sh/qas48d7409t2syz/AACk5G2ngZ0vylLXsLFZXif_a?dl=0). Only hg19, hg38 and mm10 are available currently. Unzip it ```$ unzip hg19.zip ``` 2. Download HiNT background matrices [HERE](https://www.dropbox.com/sh/fyxx9u5g5vn57ez/AAAx-DtByKaU6HvTYyEUvCzRa?dl=0). Only hg19, hg38 and mm10 are available currently. Unzip it ```$ unzip hg19.zip ``` 3. Download BWA index files [HERE](https://www.dropbox.com/sh/l004df4108s6d3c/AAB6qtS95mBK_MdDZYlo2V-pa?dl=0). Only hg19, hg38 and mm10 are available currently. Unzip it ```$ unzip hg19.zip ``` ## Quick Start * Download the test datasets from [HERE](https://www.dropbox.com/sh/z1rceh8ddnsdtj7/AAC0VuDu48eh_RtzKHipztkLa?dl=0) ### HiNT-PRE HiNT pre: Preprocessing Hi-C data. HiNT pre does alignment, contact matrix creation and normalization in one command line. ```$ hint pre -d /path/to/hic_1.fastq.gz,/path/to/hic_2.fastq.gz -i /path/to/bwaIndex/hg19/hg19.fa --refdir /path/to/refData/hg19 --informat fastq --outformat cooler -g hg19 -n test -o /path/to/outputdir --pairtoolspath /path/to/pairtools --samtoolspath /path/to/samtools --coolerpath /path/to/cooler``` ```$ hint pre -d /path/to/test.bam --refdir /path/to/refData/hg19 --informat bam --outformat juicer -g hg19 -n test -o /path/to/outputdir --pairtoolspath /path/to/pairtools --samtoolspath /path/to/samtools --juicerpath /path/to/juicer_tools.1.8.9_jcuda.0.8.jar``` use ```$ which samtools ``` ```$ which pairtools ``` ```$ which cooler ``` to get the absolute path of these tools, and ```/path/to/juicer_tools.1.8.9_jcuda.0.8.jar``` should be the path where you store this file see details and more options ```$ hint pre -h ``` ### HiNT-CNV HiNT cnv: prediction of copy number information, as well as segmentation from Hi-C. ```$ hint cnv -m contactMatrix.cool -f cooler --refdir /path/to/refDir/hg19 -r 50 -g hg19 -n test -o /path/to/outputDir --bicseq /path/to/BICseq2-seg_v0.7.3 -e MboI``` ```$ hint cnv -m /path/to/4DNFIS6HAUPP.mcool::/resolutions/50000 -f cooler --refdir /path/to/refDir/hg38 -r 50 -g hg38 -n HepG2 --bicseq /path/to/BICseq2-seg_v0.7.3 -e DpnII``` ```$ hint cnv -m /path/to/4DNFICSTCJQZ.hic -f juicer --refdir /path/to/refDir/hg38 -r 50 -g hg38 -n HepG2 --bicseq /path/to/BICseq2-seg_v0.7.3 -e DpnII``` ```$ hint cnv -m /path/to/4DNFICSTCJQZ.hic -f juicer --refdir /path/to/refDir/hg38 -r 50 -g hg38 -n HepG2 --bicseq /path/to/BICseq2-seg_v0.7.3 -e DpnII --doiter``` ```/path/to/BICseq2-seg_v0.7.3``` should be the path where you store this package see details and more options ```$ hint cnv -h ``` ### HiNT-TL HiNT tl: interchromosomal translocations and breakpoints detection from Hi-C inter-chromosomal interaction matrices. ```$ hint tl -m /path/to/data_1Mb.cool,/path/to/data_100kb.cool --chimeric /path/to/test_chimeric.sorted.pairsam.gz --refdir /path/to/refDir/hg19 --backdir /path/to/backgroundMatrices/hg19 --ppath /path/to/pairix -f cooler -g hg19 -n test -o /path/to/outputDir``` ```$ hint tl -m /path/to/4DNFIS6HAUPP.mcool::/resolutions/1000000,/path/to/4DNFIS6HAUPP.mcool::/resolutions/100000 -f cooler --refdir /path/to/refDir/hg38 --backdir /path/to/backgroundMatrices/hg38 -g hg38 -n 4DNFICSTCJQZ -c 0.05 --ppath /path/to/pairix -p 12``` ```$ hint tl -m /path/to/4DNFICSTCJQZ.hic -f juicer --refdir /path/to/refData/hg38 --backdir /path/to/backgroundMatrices/hg38 -g hg38 -n 4DNFICSTCJQZ -c 0.05 --ppath /path/to/pairix -p 12 -o HiNTtransl_juicerOUTPUT``` use ```$ which pairix ``` to get the absolute path of pairix see details and more options ```$ hint tl -h ``` ## Output of HiNT ### HiNT-PRE output In the HiNT-PRE output directory, you will find 1. ```jobname.bam``` aligned lossless file in bam format 2. ```jobname_merged_valid.pairs.gz``` reads pairs in pair format 3. ```jobname_chimeric.sorted.pairsam.gz``` ambiguous chimeric read pairs used for breakpoint detection in [pairsam](https://github.com/mirnylab/pairtools) format 4. ```jobname_valid.sorted.deduped.pairsam.gz``` valid read pairs used for Hi-C contact matrix creation in [pairsam](https://github.com/mirnylab/pairtools) format 5. ```jobname.mcool``` Hi-C contact matrix in [cool](https://github.com/mirnylab/cooler) format 6. ```jobname.hic``` Hi-C contact matrix in [hic](https://github.com/aidenlab/juicer) format ### HiNT-CNV output In the HiNT-CNV output directory, you will find 1. ```jobname_GAMPoisson.pdf``` the GAM regression result 2. ```segmentation/jobname_bicsq_allchroms.txt``` CNV segments with log2 copy ratio and p-values in txt file 3. ```segmentation/jobname_resolution_CNV_segments.png``` figure to visualize CNV segments 4. ```segmentation/jobname_bicseq_allchroms.l2r.pdf``` figure to visualize log2 copy ration in each bin (bin size = resolution you set) 5. ```segmentation/other_files``` intermediate files used to run BIC-seq 6. ```jonname_dataForRegression/*``` data used for regression as well as residuals after removing Hi-C biases ### HiNT-TL output In the HiNT-TL output directory, you will find 1. ```jobname_Translocation_IntegratedBP.txt``` the final integrated translocation breakpoint 2. ```jobname_chrompairs_rankProduct.txt``` rank product predicted potential translocated chromosome pairs 3. ```otherFolders``` intermediate files used to identify the translocation breakpoints %package help Summary: Development documents and examples for HiNT-Package Provides: python3-HiNT-Package-doc %description help # HiNT ## A computational method for detecting copy number variations and translocations from Hi-C data ## Summary **HiNT** (**Hi**-C for copy **N**umber variation and **T**ranslocation detection), a computational method to detect CNVs and Translocations from Hi-C data. HiNT has three main components: **HiNT-PRE**, **HiNT-CNV**, and **HiNT-TL**. HiNT-PRE preprocesses Hi-C data and computes the contact matrix, which stores contact frequencies between any two genomic loci; both HiNT-CNV and HiNT-TL starts with HI-C contact matrix, predicts copy number segments, and inter-chromosomal translocations, respectively #### Overview of HiNT workflow: ## Installation ### Dependencies R and R packages 1. [R >= 3.4](https://www.r-project.org/) 2. [mgcv](https://cran.r-project.org/web/packages/mgcv/index.html), [strucchange](https://cran.r-project.org/web/packages/strucchange/index.html), [doParallel](https://www.rdocumentation.org/packages/parallel/versions/3.4.1), [Cairo](https://cran.r-project.org/web/packages/Cairo/index.html), [foreach](https://cran.r-project.org/web/packages/optparse/index.html) Python and Python packages 1. [python >= 3.5](https://www.python.org/) 2. [pyparix >= 0.3.0](https://github.com/4dn-dcic/pairix#pypairix), [cooler >= 0.7.4](https://github.com/mirnylab/cooler), [pairtools >= 0.2.2](https://github.com/mirnylab/pairtools), [numpy](https://www.scipy.org/install.html), [scipy](https://www.scipy.org/install.html), [pandas](https://pandas.pydata.org/), [sklearn](https://scikit-learn.org/stable/install.html), [multiprocessing](https://pypi.org/project/multiprocess/) Java and related tools (Optional: required when want to process Hi-C data with juicer tools) 1. [Java (version >= 1.7)](https://www.java.com/en/download/) 2. [Juicer tools (1.8.9 is recommended)](https://github.com/aidenlab/juicer/wiki/Download) Perl 1. [Perl (version >= 5)](https://www.perl.org/) Other dependencies 1. [samtools](http://www.htslib.org/doc/) (1.3.1+) 2. [BIC-seq2](http://www.math.pku.edu.cn/teachers/xirb/downloads/software/BICseq2/BICseq2/BICseq2-seg_v0.7.3.tar.gz) (0.7.3) ! This is optional: if you don't want to run HiNT-CNV, you don't need this package. [Download BICseq2, unzip it, and give the path of BICseq2-seg_v0.7.3 (/path/to/BICseq2-seg_v0.7.3)]. 3. [bwa](https://sourceforge.net/projects/bio-bwa/files/) (0.7.16+) ! This is optional: required only when your input is fastq 4. [tabix](https://sourceforge.net/projects/samtools/files/tabix/) (0.2.6) ### Install HiNT * Method1: Install using conda (highly recommended) ``` $ conda install -c su hint``` or ``` $ conda install hint``` * Method2: Install from PyPI using pip. ``` $ pip install HiNT-Packages``` * Method3: Install manually 1. Install HiNT dependencies 2. Download HiNT ```git clone https://github.com/parklab/HiNT.git``` 3. Go to HiNT directory, install it by ```$ python setup.py install ``` *** Type ```$ hint``` to test if HiNT successfully installed * Method 4: Run HiNT in a Docker container (highly recommended) ``` $ docker pull suwangbio/hint``` ``` $ docker run suwangbio/hint hint``` See details of the usage on HiNT page at [docker hub](https://hub.docker.com/r/suwangbio/hint) ### Download reference files used in HiNT [HERE](https://www.dropbox.com/sh/2ufsyu4wvrboxxp/AABk5-_Fwy7jdM_t0vIsgYf4a?dl=0) 1. Download HiNT references [HERE](https://www.dropbox.com/sh/qas48d7409t2syz/AACk5G2ngZ0vylLXsLFZXif_a?dl=0). Only hg19, hg38 and mm10 are available currently. Unzip it ```$ unzip hg19.zip ``` 2. Download HiNT background matrices [HERE](https://www.dropbox.com/sh/fyxx9u5g5vn57ez/AAAx-DtByKaU6HvTYyEUvCzRa?dl=0). Only hg19, hg38 and mm10 are available currently. Unzip it ```$ unzip hg19.zip ``` 3. Download BWA index files [HERE](https://www.dropbox.com/sh/l004df4108s6d3c/AAB6qtS95mBK_MdDZYlo2V-pa?dl=0). Only hg19, hg38 and mm10 are available currently. Unzip it ```$ unzip hg19.zip ``` ## Quick Start * Download the test datasets from [HERE](https://www.dropbox.com/sh/z1rceh8ddnsdtj7/AAC0VuDu48eh_RtzKHipztkLa?dl=0) ### HiNT-PRE HiNT pre: Preprocessing Hi-C data. HiNT pre does alignment, contact matrix creation and normalization in one command line. ```$ hint pre -d /path/to/hic_1.fastq.gz,/path/to/hic_2.fastq.gz -i /path/to/bwaIndex/hg19/hg19.fa --refdir /path/to/refData/hg19 --informat fastq --outformat cooler -g hg19 -n test -o /path/to/outputdir --pairtoolspath /path/to/pairtools --samtoolspath /path/to/samtools --coolerpath /path/to/cooler``` ```$ hint pre -d /path/to/test.bam --refdir /path/to/refData/hg19 --informat bam --outformat juicer -g hg19 -n test -o /path/to/outputdir --pairtoolspath /path/to/pairtools --samtoolspath /path/to/samtools --juicerpath /path/to/juicer_tools.1.8.9_jcuda.0.8.jar``` use ```$ which samtools ``` ```$ which pairtools ``` ```$ which cooler ``` to get the absolute path of these tools, and ```/path/to/juicer_tools.1.8.9_jcuda.0.8.jar``` should be the path where you store this file see details and more options ```$ hint pre -h ``` ### HiNT-CNV HiNT cnv: prediction of copy number information, as well as segmentation from Hi-C. ```$ hint cnv -m contactMatrix.cool -f cooler --refdir /path/to/refDir/hg19 -r 50 -g hg19 -n test -o /path/to/outputDir --bicseq /path/to/BICseq2-seg_v0.7.3 -e MboI``` ```$ hint cnv -m /path/to/4DNFIS6HAUPP.mcool::/resolutions/50000 -f cooler --refdir /path/to/refDir/hg38 -r 50 -g hg38 -n HepG2 --bicseq /path/to/BICseq2-seg_v0.7.3 -e DpnII``` ```$ hint cnv -m /path/to/4DNFICSTCJQZ.hic -f juicer --refdir /path/to/refDir/hg38 -r 50 -g hg38 -n HepG2 --bicseq /path/to/BICseq2-seg_v0.7.3 -e DpnII``` ```$ hint cnv -m /path/to/4DNFICSTCJQZ.hic -f juicer --refdir /path/to/refDir/hg38 -r 50 -g hg38 -n HepG2 --bicseq /path/to/BICseq2-seg_v0.7.3 -e DpnII --doiter``` ```/path/to/BICseq2-seg_v0.7.3``` should be the path where you store this package see details and more options ```$ hint cnv -h ``` ### HiNT-TL HiNT tl: interchromosomal translocations and breakpoints detection from Hi-C inter-chromosomal interaction matrices. ```$ hint tl -m /path/to/data_1Mb.cool,/path/to/data_100kb.cool --chimeric /path/to/test_chimeric.sorted.pairsam.gz --refdir /path/to/refDir/hg19 --backdir /path/to/backgroundMatrices/hg19 --ppath /path/to/pairix -f cooler -g hg19 -n test -o /path/to/outputDir``` ```$ hint tl -m /path/to/4DNFIS6HAUPP.mcool::/resolutions/1000000,/path/to/4DNFIS6HAUPP.mcool::/resolutions/100000 -f cooler --refdir /path/to/refDir/hg38 --backdir /path/to/backgroundMatrices/hg38 -g hg38 -n 4DNFICSTCJQZ -c 0.05 --ppath /path/to/pairix -p 12``` ```$ hint tl -m /path/to/4DNFICSTCJQZ.hic -f juicer --refdir /path/to/refData/hg38 --backdir /path/to/backgroundMatrices/hg38 -g hg38 -n 4DNFICSTCJQZ -c 0.05 --ppath /path/to/pairix -p 12 -o HiNTtransl_juicerOUTPUT``` use ```$ which pairix ``` to get the absolute path of pairix see details and more options ```$ hint tl -h ``` ## Output of HiNT ### HiNT-PRE output In the HiNT-PRE output directory, you will find 1. ```jobname.bam``` aligned lossless file in bam format 2. ```jobname_merged_valid.pairs.gz``` reads pairs in pair format 3. ```jobname_chimeric.sorted.pairsam.gz``` ambiguous chimeric read pairs used for breakpoint detection in [pairsam](https://github.com/mirnylab/pairtools) format 4. ```jobname_valid.sorted.deduped.pairsam.gz``` valid read pairs used for Hi-C contact matrix creation in [pairsam](https://github.com/mirnylab/pairtools) format 5. ```jobname.mcool``` Hi-C contact matrix in [cool](https://github.com/mirnylab/cooler) format 6. ```jobname.hic``` Hi-C contact matrix in [hic](https://github.com/aidenlab/juicer) format ### HiNT-CNV output In the HiNT-CNV output directory, you will find 1. ```jobname_GAMPoisson.pdf``` the GAM regression result 2. ```segmentation/jobname_bicsq_allchroms.txt``` CNV segments with log2 copy ratio and p-values in txt file 3. ```segmentation/jobname_resolution_CNV_segments.png``` figure to visualize CNV segments 4. ```segmentation/jobname_bicseq_allchroms.l2r.pdf``` figure to visualize log2 copy ration in each bin (bin size = resolution you set) 5. ```segmentation/other_files``` intermediate files used to run BIC-seq 6. ```jonname_dataForRegression/*``` data used for regression as well as residuals after removing Hi-C biases ### HiNT-TL output In the HiNT-TL output directory, you will find 1. ```jobname_Translocation_IntegratedBP.txt``` the final integrated translocation breakpoint 2. ```jobname_chrompairs_rankProduct.txt``` rank product predicted potential translocated chromosome pairs 3. ```otherFolders``` intermediate files used to identify the translocation breakpoints %prep %autosetup -n HiNT-Package-2.2.8 %build %py3_build %install %py3_install install -d -m755 %{buildroot}/%{_pkgdocdir} if [ -d doc ]; then cp -arf doc %{buildroot}/%{_pkgdocdir}; fi if [ -d docs ]; then cp -arf docs %{buildroot}/%{_pkgdocdir}; fi if [ -d example ]; then cp -arf example %{buildroot}/%{_pkgdocdir}; fi if [ -d examples ]; then cp -arf examples %{buildroot}/%{_pkgdocdir}; fi pushd %{buildroot} if [ -d usr/lib ]; then find usr/lib -type f -printf "\"/%h/%f\"\n" >> filelist.lst fi if [ -d usr/lib64 ]; then find usr/lib64 -type f -printf "\"/%h/%f\"\n" >> filelist.lst fi if [ -d usr/bin ]; then find usr/bin -type f -printf "\"/%h/%f\"\n" >> filelist.lst fi if [ -d usr/sbin ]; then find usr/sbin -type f -printf "\"/%h/%f\"\n" >> filelist.lst fi touch doclist.lst if [ -d usr/share/man ]; then find usr/share/man -type f -printf "\"/%h/%f.gz\"\n" >> doclist.lst fi popd mv %{buildroot}/filelist.lst . mv %{buildroot}/doclist.lst . %files -n python3-HiNT-Package -f filelist.lst %dir %{python3_sitelib}/* %files help -f doclist.lst %{_docdir}/* %changelog * Thu Jun 08 2023 Python_Bot - 2.2.8-1 - Package Spec generated