{ "cells": [ { "cell_type": "markdown", "metadata": {}, "source": [ "# pandasVCF" ] }, { "cell_type": "markdown", "metadata": {}, "source": [ "### This example notebook describes simple usage of pandasVCFmulti, a module for parsing VCF files using the pandas library. pandasVCFmulti also handles single sample vcf files. " ] }, { "cell_type": "markdown", "metadata": {}, "source": [ "# Libraries" ] }, { "cell_type": "code", "execution_count": 1, "metadata": { "collapsed": false }, "outputs": [ { "name": "stdout", "output_type": "stream", "text": [ "Populating the interactive namespace from numpy and matplotlib\n" ] } ], "source": [ "#Import pdVCFsingle package\n", "%matplotlib inline\n", "%pylab inline\n", "import sys\n", "sys.path.append( '../src/' )\n", "from pandasvcf import *\n", "%config InlineBackend.figure_format = 'retina'\n", "pd.options.mode.chained_assignment = None #supressing the chained assignment warnings" ] }, { "cell_type": "markdown", "metadata": {}, "source": [ "# Example File Path" ] }, { "cell_type": "code", "execution_count": 2, "metadata": { "collapsed": false }, "outputs": [], "source": [ "vcf_path = '../test_data/ALL.chr22.phase3_shapeit2_mvncall_integrated_v4.20130502.genotypes_10k.vcf.gz'\n" ] }, { "cell_type": "markdown", "metadata": {}, "source": [ "# Creating Vcf object" ] }, { "cell_type": "markdown", "metadata": {}, "source": [ "### Initiate Vcf object by specifying the sample_id string and the columns the user wants to include for parsing. \n", "\n", "###Only the CHROM, POS, REF, ALT, and FORMAT fields are required.\n", "\n", "###Some VCF files are quite large and will not fit in memory, therefore the user can specify the chunksize which allows iteration through the VCF. " ] }, { "cell_type": "code", "execution_count": 3, "metadata": { "collapsed": false }, "outputs": [], "source": [ "vcf_chunk = VCF(vcf_path, sample_id='all', cols=['#CHROM', 'POS', 'REF', 'ALT', 'FORMAT', 'INFO', 'FILTER'], \\\n", " chunksize=1000, n_cores=20)" ] }, { "cell_type": "code", "execution_count": 4, "metadata": { "collapsed": false }, "outputs": [ { "name": "stdout", "output_type": "stream", "text": [ "CPU times: user 38.7 s, sys: 528 ms, total: 39.2 s\n", "Wall time: 38.9 s\n" ] }, { "data": { "text/plain": [ "0" ] }, "execution_count": 4, "metadata": {}, "output_type": "execute_result" } ], "source": [ "%time vcf_chunk.get_vcf_df_chunk()\n" ] }, { "cell_type": "code", "execution_count": 5, "metadata": { "collapsed": false }, "outputs": [ { "name": "stdout", "output_type": "stream", "text": [ "\n", "MultiIndex: 1000 entries, (22, 16050075, A, G) to (22, 16139996, G, T)\n", "Columns: 2511 entries, CHROM to NA21144\n", "dtypes: int64(1), object(2510)\n", "memory usage: 19.2+ MB\n", "\n", "2511000 Genotypes read\n" ] } ], "source": [ "vcf_chunk.df.info()\n", "print \n", "print vcf_chunk.df.shape[1] * vcf_chunk.df.shape[0], 'Genotypes read'" ] }, { "cell_type": "code", "execution_count": 6, "metadata": { "collapsed": false }, "outputs": [ { "data": { "text/html": [ "
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CHROMPOSREFALTFILTERINFOFORMATHG00096HG00097HG00099...NA21128NA21129NA21130NA21133NA21135NA21137NA21141NA21142NA21143NA21144
CHROMPOSREFALT
2216050075AG2216050075AGPASSAC=1;AF=0.000199681;AN=5008;NS=2504GT0|00|00|0...0|00|00|00|00|00|00|00|00|00|0
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5 rows × 2511 columns

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" ], "text/plain": [ " CHROM POS REF ALT FILTER \\\n", "CHROM POS REF ALT \n", "22 16050075 A G 22 16050075 A G PASS \n", " 16050115 G A 22 16050115 G A PASS \n", " 16050213 C T 22 16050213 C T PASS \n", " 16050319 C T 22 16050319 C T PASS \n", " 16050527 C A 22 16050527 C A PASS \n", "\n", " INFO FORMAT HG00096 \\\n", "CHROM POS REF ALT \n", "22 16050075 A G AC=1;AF=0.000199681;AN=5008;NS=2504 GT 0|0 \n", " 16050115 G A AC=32;AF=0.00638978;AN=5008;NS=2504 GT 0|0 \n", " 16050213 C T AC=38;AF=0.00758786;AN=5008;NS=2504 GT 0|0 \n", " 16050319 C T AC=1;AF=0.000199681;AN=5008;NS=2504 GT 0|0 \n", " 16050527 C A AC=1;AF=0.000199681;AN=5008;NS=2504 GT 0|0 \n", "\n", " HG00097 HG00099 ... NA21128 NA21129 NA21130 \\\n", "CHROM POS REF ALT ... \n", "22 16050075 A G 0|0 0|0 ... 0|0 0|0 0|0 \n", " 16050115 G A 0|0 0|0 ... 0|0 0|0 0|0 \n", " 16050213 C T 0|0 0|0 ... 0|0 0|0 0|0 \n", " 16050319 C T 0|0 0|0 ... 0|0 0|0 0|0 \n", " 16050527 C A 0|0 0|0 ... 0|0 0|0 0|0 \n", "\n", " NA21133 NA21135 NA21137 NA21141 NA21142 NA21143 NA21144 \n", "CHROM POS REF ALT \n", "22 16050075 A G 0|0 0|0 0|0 0|0 0|0 0|0 0|0 \n", " 16050115 G A 0|0 0|0 0|0 0|0 0|0 0|0 0|0 \n", " 16050213 C T 0|0 0|0 0|0 0|0 0|0 0|0 0|0 \n", " 16050319 C T 0|0 0|0 0|0 0|0 0|0 0|0 0|0 \n", " 16050527 C A 0|0 0|0 0|0 0|0 0|0 0|0 0|0 \n", "\n", "[5 rows x 2511 columns]" ] }, "execution_count": 6, "metadata": {}, "output_type": "execute_result" } ], "source": [ "vcf_chunk.df.head()" ] }, { "cell_type": "code", "execution_count": 7, "metadata": { "collapsed": false }, "outputs": [ { "data": { "text/plain": [ "False" ] }, "execution_count": 7, "metadata": {}, "output_type": "execute_result" } ], "source": [ "#checking stopIteration flag\n", "vcf_chunk.stopIteration" ] }, { "cell_type": "markdown", "metadata": {}, "source": [ "### Adding Annotations" ] }, { "cell_type": "code", "execution_count": 8, "metadata": { "collapsed": false }, "outputs": [ { "name": "stdout", "output_type": "stream", "text": [ "CPU times: user 963 ms, sys: 141 ms, total: 1.1 s\n", "Wall time: 2.47 s\n" ] }, { "data": { "text/plain": [ "0" ] }, "execution_count": 8, "metadata": {}, "output_type": "execute_result" } ], "source": [ "%time vcf_chunk.add_variant_annotations(inplace=True) #split_columns={'AD':2, 'HQ':2}," ] }, { "cell_type": "code", "execution_count": 9, "metadata": { "collapsed": false }, "outputs": [ { "name": "stdout", "output_type": "stream", "text": [ "\n", "MultiIndex: 101737 entries, (22, 16050075, A, G) to (22, 16139996, G, T)\n", "Data columns (total 15 columns):\n", "sample_ids 101737 non-null object\n", "multiallele 101737 non-null int64\n", "phase 101737 non-null object\n", "GT1 101737 non-null int64\n", "GT2 101737 non-null int64\n", "a1 101737 non-null object\n", "a2 101737 non-null object\n", "zygosity 101737 non-null object\n", "vartype1 101737 non-null object\n", "vartype2 101737 non-null object\n", "GT 101737 non-null object\n", "FORMAT 101737 non-null object\n", "hom_ref_counts 101737 non-null float64\n", "INFO 101737 non-null object\n", "FILTER 101737 non-null object\n", "dtypes: float64(1), int64(3), object(11)\n", "memory usage: 12.1+ MB\n" ] } ], "source": [ "vcf_chunk.df.info()" ] }, { "cell_type": "markdown", "metadata": {}, "source": [ "### Unstacking the parsed dataframe by sample leads to sparsity due to rare variants" ] }, { "cell_type": "code", "execution_count": 10, "metadata": { "collapsed": false }, "outputs": [ { "data": { "text/html": [ "
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multiallele...FILTER
sample_idsHG00096HG00097HG00099HG00100HG00101HG00102HG00103HG00105HG00106HG00107...NA21128NA21129NA21130NA21133NA21135NA21137NA21141NA21142NA21143NA21144
CHROMPOSREFALT
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16139876CTNaNNaNNaNNaNNaNNaNNaNNaNNaNNaN...NaNNaNNaNNaNNaNNaNNaNNaNNaNNaN
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16139996GTNaNNaNNaNNaNNaNNaNNaNNaNNaNNaN...NaNNaNNaNNaNNaNNaNNaNNaNNaNNaN
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5 rows × 35056 columns

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" ], "text/plain": [ " multiallele \\\n", "sample_ids HG00096 HG00097 HG00099 HG00100 HG00101 HG00102 \n", "CHROM POS REF ALT \n", "22 16139873 C T NaN NaN NaN NaN NaN NaN \n", " 16139876 C T NaN NaN NaN NaN NaN NaN \n", " 16139887 A T NaN NaN NaN NaN NaN NaN \n", " 16139971 A G NaN NaN NaN NaN NaN NaN \n", " 16139996 G T NaN NaN NaN NaN NaN NaN \n", "\n", " ... FILTER \\\n", "sample_ids HG00103 HG00105 HG00106 HG00107 ... NA21128 \n", "CHROM POS REF ALT ... \n", "22 16139873 C T NaN NaN NaN NaN ... NaN \n", " 16139876 C T NaN NaN NaN NaN ... NaN \n", " 16139887 A T NaN NaN NaN NaN ... NaN \n", " 16139971 A G NaN NaN NaN NaN ... NaN \n", " 16139996 G T NaN NaN NaN NaN ... NaN \n", "\n", " \\\n", "sample_ids NA21129 NA21130 NA21133 NA21135 NA21137 NA21141 \n", "CHROM POS REF ALT \n", "22 16139873 C T NaN NaN NaN NaN NaN NaN \n", " 16139876 C T NaN NaN NaN NaN NaN NaN \n", " 16139887 A T NaN NaN NaN NaN NaN NaN \n", " 16139971 A G NaN NaN NaN NaN NaN NaN \n", " 16139996 G T NaN NaN NaN NaN NaN NaN \n", "\n", " \n", "sample_ids NA21142 NA21143 NA21144 \n", "CHROM POS REF ALT \n", "22 16139873 C T NaN NaN NaN \n", " 16139876 C T NaN NaN NaN \n", " 16139887 A T NaN NaN NaN \n", " 16139971 A G NaN NaN NaN \n", " 16139996 G T NaN NaN NaN \n", "\n", "[5 rows x 35056 columns]" ] }, "execution_count": 10, "metadata": {}, "output_type": "execute_result" } ], "source": [ "#unstack dataframe by sample - QUITE SPARSE DUE TO RARE VARIANTS\n", "vcf_chunk.df.set_index('sample_ids', append=True).unstack(level=4).tail()" ] }, { "cell_type": "markdown", "metadata": {}, "source": [ "## CONVENINCE FUNCTION FOR PARSING AN ENTIRE MULTISAMPLE FILE" ] }, { "cell_type": "markdown", "metadata": {}, "source": [ "###!!! Known Issue: get_whole_file will break if there are duplicate rows for the same genotype." ] }, { "cell_type": "code", "execution_count": 11, "metadata": { "collapsed": false }, "outputs": [], "source": [ "def get_whole_file(vcf_path, sample_ids='all', columns=['#CHROM', 'POS', 'REF', 'ALT', 'FORMAT'], \\\n", " add_variant_annotations=True, split_columns='', chunksize=5000, inplace=True, n_cores=1):\n", " '''\n", " This function will parse the whole multi-sample vcf file\n", " and return a dataframe.\n", " \n", " Note using multiple cores with add_variant_annotations will be \n", " very memory intensive as the parsed dataframe is copied to each process.\n", " '''\n", " \n", " vcf_df_obj = Vcf(vcf_path, sample_id=sample_ids, cols=columns, chunksize=chunksize, n_cores=n_cores) #initiate object\n", " stopIteration = False #initiating stopIteration flag\n", " data = [] #aggregation df list\n", " \n", " while stopIteration == False:\n", "\n", " vcf_df_obj.get_vcf_df_chunk() #retrieving df chunk\n", " if vcf_df_obj.stopIteration == True: break #checking for end of file\n", " \n", " if add_variant_annotations: \n", " vcf_df_obj.add_variant_annotations(split_columns=split_columns, inplace=inplace) #parsing df and adding annotations\n", " if inplace:\n", " data.append(vcf_df_obj.df)\n", " else:\n", " data.append(vcf_df_obj.df_annot) #aggregating annotation data\n", " else:\n", " vcf_df_obj.append(vcf_df_obj.df)\n", "\n", " df = pd.concat(data)\n", " return df" ] }, { "cell_type": "code", "execution_count": 12, "metadata": { "collapsed": false }, "outputs": [ { "name": "stdout", "output_type": "stream", "text": [ "End of File Reached\n", "CPU times: user 1min 31s, sys: 2.53 s, total: 1min 34s\n", "Wall time: 1min 40s\n" ] } ], "source": [ "%time master_df = get_whole_file(vcf_path, sample_ids='all', \\\n", " columns=['#CHROM', 'POS', 'REF', 'ALT','FORMAT', 'INFO'], \\\n", " chunksize=5000, n_cores=20)\n", "\n" ] }, { "cell_type": "code", "execution_count": 13, "metadata": { 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"data": { "text/plain": [ "snp 483986\n", "ref 244660\n", "del 19604\n", "ins 7551\n", "dtype: int64" ] }, "execution_count": 15, "metadata": {}, "output_type": "execute_result" } ], "source": [ "master_df.vartype2.value_counts()" ] }, { "cell_type": "code", "execution_count": 16, "metadata": { "collapsed": false }, "outputs": [ { "data": { "text/plain": [ "755801" ] }, "execution_count": 16, "metadata": {}, "output_type": "execute_result" } ], "source": [ "len(master_df)" ] }, { "cell_type": "code", "execution_count": 17, "metadata": { "collapsed": false }, "outputs": [ { "data": { "text/html": [ "
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sample_idsmultiallelephaseGT1GT2a1a2zygosityvartype1vartype2GTFORMAThom_ref_countsINFO
CHROMPOSREFALT
2216050075AGHG037700|01AGhet-refrefsnp0|1GT2503AC=1;AF=0.000199681;AN=5008;NS=2504
16050115GAHG013630|01GAhet-refrefsnp0|1GT2472AC=32;AF=0.00638978;AN=5008;NS=2504
AHG023340|01GAhet-refrefsnp0|1GT2472AC=32;AF=0.00638978;AN=5008;NS=2504
AHG023430|01GAhet-refrefsnp0|1GT2472AC=32;AF=0.00638978;AN=5008;NS=2504
AHG025740|01GAhet-refrefsnp0|1GT2472AC=32;AF=0.00638978;AN=5008;NS=2504
AHG030520|01GAhet-refrefsnp0|1GT2472AC=32;AF=0.00638978;AN=5008;NS=2504
AHG033540|01GAhet-refrefsnp0|1GT2472AC=32;AF=0.00638978;AN=5008;NS=2504
AHG034320|01GAhet-refrefsnp0|1GT2472AC=32;AF=0.00638978;AN=5008;NS=2504
AHG034730|01GAhet-refrefsnp0|1GT2472AC=32;AF=0.00638978;AN=5008;NS=2504
ANA185160|01GAhet-refrefsnp0|1GT2472AC=32;AF=0.00638978;AN=5008;NS=2504
ANA188580|01GAhet-refrefsnp0|1GT2472AC=32;AF=0.00638978;AN=5008;NS=2504
ANA188740|01GAhet-refrefsnp0|1GT2472AC=32;AF=0.00638978;AN=5008;NS=2504
ANA190270|01GAhet-refrefsnp0|1GT2472AC=32;AF=0.00638978;AN=5008;NS=2504
ANA191210|01GAhet-refrefsnp0|1GT2472AC=32;AF=0.00638978;AN=5008;NS=2504
ANA191370|01GAhet-refrefsnp0|1GT2472AC=32;AF=0.00638978;AN=5008;NS=2504
ANA197070|01GAhet-refrefsnp0|1GT2472AC=32;AF=0.00638978;AN=5008;NS=2504
ANA199840|01GAhet-refrefsnp0|1GT2472AC=32;AF=0.00638978;AN=5008;NS=2504
AHG024970|10AGhet-refsnpref1|0GT2472AC=32;AF=0.00638978;AN=5008;NS=2504
AHG025360|10AGhet-refsnpref1|0GT2472AC=32;AF=0.00638978;AN=5008;NS=2504
AHG026230|10AGhet-refsnpref1|0GT2472AC=32;AF=0.00638978;AN=5008;NS=2504
\n", "
" ], "text/plain": [ " sample_ids multiallele phase GT1 GT2 a1 a2 zygosity \\\n", "CHROM POS REF ALT \n", "22 16050075 A G HG03770 0 | 0 1 A G het-ref \n", " 16050115 G A HG01363 0 | 0 1 G A het-ref \n", " A HG02334 0 | 0 1 G A het-ref \n", " A HG02343 0 | 0 1 G A het-ref \n", " A HG02574 0 | 0 1 G A het-ref \n", " A HG03052 0 | 0 1 G A het-ref \n", " A HG03354 0 | 0 1 G A het-ref \n", " A HG03432 0 | 0 1 G A het-ref \n", " A HG03473 0 | 0 1 G A het-ref \n", " A NA18516 0 | 0 1 G A het-ref \n", " A NA18858 0 | 0 1 G A het-ref \n", " A NA18874 0 | 0 1 G A het-ref \n", " A NA19027 0 | 0 1 G A het-ref \n", " A NA19121 0 | 0 1 G A het-ref \n", " A NA19137 0 | 0 1 G A het-ref \n", " A NA19707 0 | 0 1 G A het-ref \n", " A NA19984 0 | 0 1 G A het-ref \n", " A HG02497 0 | 1 0 A G het-ref \n", " A HG02536 0 | 1 0 A G het-ref \n", " A HG02623 0 | 1 0 A G het-ref \n", "\n", " vartype1 vartype2 GT FORMAT hom_ref_counts \\\n", "CHROM POS REF ALT \n", "22 16050075 A G ref snp 0|1 GT 2503 \n", " 16050115 G A ref snp 0|1 GT 2472 \n", " A ref snp 0|1 GT 2472 \n", " A ref snp 0|1 GT 2472 \n", " A ref snp 0|1 GT 2472 \n", " A ref snp 0|1 GT 2472 \n", " A ref snp 0|1 GT 2472 \n", " A ref snp 0|1 GT 2472 \n", " A ref snp 0|1 GT 2472 \n", " A ref snp 0|1 GT 2472 \n", " A ref snp 0|1 GT 2472 \n", " A ref snp 0|1 GT 2472 \n", " A ref snp 0|1 GT 2472 \n", " A ref snp 0|1 GT 2472 \n", " A ref snp 0|1 GT 2472 \n", " A ref snp 0|1 GT 2472 \n", " A ref snp 0|1 GT 2472 \n", " A snp ref 1|0 GT 2472 \n", " A snp ref 1|0 GT 2472 \n", " A snp ref 1|0 GT 2472 \n", "\n", " INFO \n", "CHROM POS REF ALT \n", "22 16050075 A G AC=1;AF=0.000199681;AN=5008;NS=2504 \n", " 16050115 G A AC=32;AF=0.00638978;AN=5008;NS=2504 \n", " A AC=32;AF=0.00638978;AN=5008;NS=2504 \n", " A AC=32;AF=0.00638978;AN=5008;NS=2504 \n", " A AC=32;AF=0.00638978;AN=5008;NS=2504 \n", " A AC=32;AF=0.00638978;AN=5008;NS=2504 \n", " A AC=32;AF=0.00638978;AN=5008;NS=2504 \n", " A AC=32;AF=0.00638978;AN=5008;NS=2504 \n", " A AC=32;AF=0.00638978;AN=5008;NS=2504 \n", " A AC=32;AF=0.00638978;AN=5008;NS=2504 \n", " A AC=32;AF=0.00638978;AN=5008;NS=2504 \n", " A AC=32;AF=0.00638978;AN=5008;NS=2504 \n", " A AC=32;AF=0.00638978;AN=5008;NS=2504 \n", " A AC=32;AF=0.00638978;AN=5008;NS=2504 \n", " A AC=32;AF=0.00638978;AN=5008;NS=2504 \n", " A AC=32;AF=0.00638978;AN=5008;NS=2504 \n", " A AC=32;AF=0.00638978;AN=5008;NS=2504 \n", " A AC=32;AF=0.00638978;AN=5008;NS=2504 \n", " A AC=32;AF=0.00638978;AN=5008;NS=2504 \n", " A AC=32;AF=0.00638978;AN=5008;NS=2504 " ] }, "execution_count": 17, "metadata": {}, "output_type": "execute_result" } ], "source": [ "master_df.head(20)" ] }, { "cell_type": "code", "execution_count": 18, "metadata": { "collapsed": false }, "outputs": [ { "name": "stdout", "output_type": "stream", "text": [ "\n", "MultiIndex: 755801 entries, (22, 16050075, A, G) to (22, 16644712, G, C)\n", "Data columns (total 14 columns):\n", "sample_ids 755801 non-null object\n", "multiallele 755801 non-null int64\n", "phase 755801 non-null object\n", "GT1 755801 non-null int64\n", "GT2 755801 non-null int64\n", "a1 755801 non-null object\n", "a2 755801 non-null object\n", "zygosity 755801 non-null object\n", "vartype1 755801 non-null object\n", "vartype2 755801 non-null object\n", "GT 755801 non-null object\n", "FORMAT 755801 non-null object\n", "hom_ref_counts 755801 non-null float64\n", "INFO 755801 non-null object\n", "dtypes: float64(1), int64(3), object(10)\n", "memory usage: 84.4+ MB\n" ] } ], "source": [ "master_df.info()" ] } ], "metadata": { "kernelspec": { "display_name": "Python 2", "language": "python", "name": "python2" }, "language_info": { "codemirror_mode": { "name": "ipython", "version": 2 }, "file_extension": ".py", "mimetype": "text/x-python", "name": "python", "nbconvert_exporter": "python", "pygments_lexer": "ipython2", "version": "2.7.10" } }, "nbformat": 4, "nbformat_minor": 0 }