VCFTools.jl provides some Julia utilities for handling the VCF files.
# dispay Julia version info
versioninfo()
Julia Version 1.2.0 Commit c6da87ff4b (2019-08-20 00:03 UTC) Platform Info: OS: macOS (x86_64-apple-darwin18.6.0) CPU: Intel(R) Core(TM) i7-6920HQ CPU @ 2.90GHz WORD_SIZE: 64 LIBM: libopenlibm LLVM: libLLVM-6.0.1 (ORCJIT, skylake) Environment: JULIA_EDITOR = code
Current folder contains an example VCF file for demonstation.
;ls -l test.vcf.gz
-rw-r--r-- 1 huazhou staff 876514 Feb 18 23:32 test.vcf.gz
Load the VCF file and display the first 35 lines
using VCFTools
fh = openvcf("test.vcf.gz", "r")
for l in 1:35
println(readline(fh))
end
close(fh)
##fileformat=VCFv4.1 ##INFO=<ID=LDAF,Number=1,Type=Float,Description="MLE Allele Frequency Accounting for LD"> ##INFO=<ID=AVGPOST,Number=1,Type=Float,Description="Average posterior probability from MaCH/Thunder"> ##INFO=<ID=RSQ,Number=1,Type=Float,Description="Genotype imputation quality from MaCH/Thunder"> ##INFO=<ID=ERATE,Number=1,Type=Float,Description="Per-marker Mutation rate from MaCH/Thunder"> ##INFO=<ID=THETA,Number=1,Type=Float,Description="Per-marker Transition rate from MaCH/Thunder"> ##INFO=<ID=CIEND,Number=2,Type=Integer,Description="Confidence interval around END for imprecise variants"> ##INFO=<ID=CIPOS,Number=2,Type=Integer,Description="Confidence interval around POS for imprecise variants"> ##INFO=<ID=END,Number=1,Type=Integer,Description="End position of the variant described in this record"> ##INFO=<ID=HOMLEN,Number=.,Type=Integer,Description="Length of base pair identical micro-homology at event breakpoints"> ##INFO=<ID=HOMSEQ,Number=.,Type=String,Description="Sequence of base pair identical micro-homology at event breakpoints"> ##INFO=<ID=SVLEN,Number=1,Type=Integer,Description="Difference in length between REF and ALT alleles"> ##INFO=<ID=SVTYPE,Number=1,Type=String,Description="Type of structural variant"> ##INFO=<ID=AC,Number=.,Type=Integer,Description="Alternate Allele Count"> ##INFO=<ID=AN,Number=1,Type=Integer,Description="Total Allele Count"> ##ALT=<ID=DEL,Description="Deletion"> ##FORMAT=<ID=GT,Number=1,Type=String,Description="Genotype"> ##FORMAT=<ID=DS,Number=1,Type=Float,Description="Genotype dosage from MaCH/Thunder"> ##FORMAT=<ID=GL,Number=.,Type=Float,Description="Genotype Likelihoods"> ##INFO=<ID=AA,Number=1,Type=String,Description="Ancestral Allele, ftp://ftp.1000genomes.ebi.ac.uk/vol1/ftp/pilot_data/technical/reference/ancestral_alignments/README"> ##INFO=<ID=AF,Number=1,Type=Float,Description="Global Allele Frequency based on AC/AN"> ##INFO=<ID=AMR_AF,Number=1,Type=Float,Description="Allele Frequency for samples from AMR based on AC/AN"> ##INFO=<ID=ASN_AF,Number=1,Type=Float,Description="Allele Frequency for samples from ASN based on AC/AN"> ##INFO=<ID=AFR_AF,Number=1,Type=Float,Description="Allele Frequency for samples from AFR based on AC/AN"> ##INFO=<ID=EUR_AF,Number=1,Type=Float,Description="Allele Frequency for samples from EUR based on AC/AN"> ##INFO=<ID=VT,Number=1,Type=String,Description="indicates what type of variant the line represents"> ##INFO=<ID=SNPSOURCE,Number=.,Type=String,Description="indicates if a snp was called when analysing the low coverage or exome alignment data"> ##reference=GRCh37 ##reference=GRCh37 #CHROM POS ID REF ALT QUAL FILTER INFO FORMAT HG00096 HG00097 HG00099 HG00100 HG00101 HG00102 HG00103 HG00104 HG00106 HG00108 HG00109 HG00110 HG00111 HG00112 HG00113 HG00114 HG00116 HG00117 HG00118 HG00119 HG00120 HG00121 HG00122 HG00123 HG00124 HG00125 HG00126 HG00127 HG00128 HG00129 HG00130 HG00131 HG00133 HG00134 HG00135 HG00136 HG00137 HG00138 HG00139 HG00140 HG00141 HG00142 HG00143 HG00146 HG00148 HG00149 HG00150 HG00151 HG00152 HG00154 HG00155 HG00156 HG00158 HG00159 HG00160 HG00171 HG00173 HG00174 HG00176 HG00177 HG00178 HG00179 HG00180 HG00182 HG00183 HG00185 HG00186 HG00187 HG00188 HG00189 HG00190 HG00231 HG00232 HG00233 HG00234 HG00235 HG00236 HG00237 HG00238 HG00239 HG00240 HG00242 HG00243 HG00244 HG00245 HG00246 HG00247 HG00249 HG00250 HG00251 HG00252 HG00253 HG00254 HG00255 HG00256 HG00257 HG00258 HG00259 HG00260 HG00261 HG00262 HG00263 HG00264 HG00265 HG00266 HG00267 HG00268 HG00269 HG00270 HG00271 HG00272 HG00273 HG00274 HG00275 HG00276 HG00277 HG00278 HG00280 HG00281 HG00282 HG00284 HG00285 HG00306 HG00309 HG00310 HG00311 HG00312 HG00313 HG00315 HG00318 HG00319 HG00320 HG00321 HG00323 HG00324 HG00325 HG00326 HG00327 HG00328 HG00329 HG00330 HG00331 HG00332 HG00334 HG00335 HG00336 HG00337 HG00338 HG00339 HG00341 HG00342 HG00343 HG00344 HG00345 HG00346 HG00349 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AC=323;AVGPOST=0.9983;AA=G;AN=2184;VT=SNP;RSQ=0.9949;LDAF=0.1473;SNPSOURCE=LOWCOV;ERATE=0.0003;THETA=0.0003;AF=0.15;ASN_AF=0.0017;AMR_AF=0.15;AFR_AF=0.31;EUR_AF=0.15 GT:DS:GL 1/0:1.000:-5.00,0.00,-5.00 0/0:0.000:-0.35,-0.43,-0.73 0/1:1.000:-1.81,-0.01,-2.95 0/0:0.000:-0.01,-1.79,-5.00 0/0:0.000:-0.06,-0.86,-5.00 1/0:1.000:-0.19,-0.46,-2.18 0/0:0.000:-0.10,-0.68,-5.00 0/1:1.000:-4.40,-0.03,-1.12 0/1:1.000:-5.00,-0.69,-0.10 0/0:0.000:-0.10,-0.69,-4.70 0/0:0.000:-0.48,-0.48,-0.48 0/1:1.000:-5.00,-0.01,-1.77 0/0:0.000:-0.18,-0.48,-2.57 0/0:0.000:-0.02,-1.31,-5.00 0/0:0.000:-0.11,-0.65,-4.70 0/0:0.000:-0.10,-0.68,-4.70 0/0:0.000:-0.01,-1.72,-5.00 1/0:1.000:-5.00,0.00,-5.00 1/0:1.000:-1.38,-0.02,-2.61 0/1:1.000:-5.00,-1.40,-0.02 0/0:0.000:-0.00,-2.97,-5.00 0/0:0.000:-0.19,-0.47,-2.15 0/0:0.000:-0.44,-0.46,-0.54 0/0:0.000:-0.00,-2.52,-5.00 0/0:0.000:-0.05,-0.93,-5.00 0/0:0.000:-0.01,-1.77,-5.00 0/1:0.750:-0.22,-0.46,-1.26 0/0:0.000:-0.03,-1.19,-5.00 0/0:0.000:-0.21,-0.46,-1.42 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0/0:0.000:-0.01,-1.66,-5.00 1/0:1.000:-5.00,-0.00,-3.74 1/0:1.000:-1.43,-0.02,-4.70 0/0:0.000:-0.05,-0.96,-5.00 0/0:0.000:-0.09,-0.74,-4.70 0/0:0.000:-0.48,-0.48,-0.48 1/0:1.000:-5.00,-0.18,-0.47 0/0:0.000:-0.17,-0.50,-2.70 0/1:1.000:-5.00,-0.00,-3.80 0/1:1.000:-2.22,-0.01,-1.97 0/1:1.000:-5.00,-0.67,-0.10 0/0:0.000:-0.21,-0.43,-2.01 0/0:0.000:-0.19,-0.47,-1.83 0/0:0.000:-0.10,-0.69,-4.40 0/0:0.000:-0.11,-0.64,-4.10 0/0:0.000:-0.18,-0.47,-2.80 0/0:0.000:-0.01,-1.47,-5.00 0/0:0.000:-0.22,-0.43,-1.61 0/0:0.000:-0.02,-1.47,-5.00 0/0:0.000:-0.01,-1.70,-5.00 0/0:0.000:-0.05,-0.97,-5.00 0/0:0.000:-0.02,-1.28,-5.00
As in typical VCF files, it has a bunch of meta-information lines, one header line, and then one line for each each marker. In this VCF, genetic data has fields GT (genotype), DS (dosage), and GL (genotype likelihood).
records = nrecords("test.vcf.gz")
1356
samples = nsamples("test.vcf.gz")
191
gtstats
function calculates genotype statistics for each marker with GT field.@time records, samples, lines, missings_by_sample, missings_by_record,
maf_by_record, minorallele_by_record = gtstats("test.vcf.gz");
1.860589 seconds (6.14 M allocations: 401.973 MiB, 9.47% gc time)
# number of markers
records
1356
# number of samples (individuals)
samples
191
# number of markers with GT field
lines
1356
# number of missing genotypes in each sample (individual)
missings_by_sample'
1×191 LinearAlgebra.Adjoint{Int64,Array{Int64,1}}: 0 0 0 0 0 0 0 0 0 0 0 0 0 … 0 0 0 0 0 0 0 0 0 0 0 0
# number of missing genotypes in each marker with GT field
missings_by_record'
1×1356 LinearAlgebra.Adjoint{Int64,Array{Int64,1}}: 0 0 0 0 0 0 0 0 0 0 0 0 0 … 0 0 0 0 0 0 0 0 0 0 0 0
# minor allele frequency of each marker with GT field
maf_by_record'
1×1356 LinearAlgebra.Adjoint{Float64,Array{Float64,1}}: 0.0 0.0 0.0 0.0 0.146597 0.0 … 0.0 0.0 0.0706806 0.0706806 0.0
# minor allele of each marker (with GT field): true (REF) or false (ALT)
minorallele_by_record'
1×1356 LinearAlgebra.Adjoint{Bool,Array{Bool,1}}: 1 1 1 1 1 1 1 1 1 1 1 1 0 … 1 1 1 1 1 1 1 1 1 1 1 1
The optional second argument of gtstats
function specifies an output file or IO stream for genotype statistics per marker. Each line has fields:
# write genotype statistics in file gtstats.out.txt
@time gtstats("test.vcf.gz", "gtstats.out.txt");
0.516509 seconds (1.88 M allocations: 184.184 MiB, 5.13% gc time)
The output file can be read as a DataFrame
for further analysis.
using CSV
gstat = CSV.read("gtstats.out.txt";
header = [:chr, :pos, :id, :ref, :alt, :qual, :filt, :info, :missings, :missfreq, :nalt, :altfreq, :nminor, :maf, :hwe],
delim = '\t',
)
chr | pos | id | ref | alt | qual | filt | info | |
---|---|---|---|---|---|---|---|---|
Int64 | Int64 | String | String | String | Float64 | String | String | |
1 | 22 | 20000086 | rs138720731 | T | C | 100.0 | PASS | AC=7;RSQ=0.8454;AVGPOST=0.9983;AA=T;AN=2184;LDAF=0.0040;THETA=0.0001;VT=SNP;SNPSOURCE=LOWCOV;ERATE=0.0003;AF=0.0032;AFR_AF=0.01 |
2 | 22 | 20000146 | rs73387790 | G | A | 100.0 | PASS | LDAF=0.0169;RSQ=0.9482;THETA=0.0004;AA=G;AN=2184;AVGPOST=0.9972;VT=SNP;SNPSOURCE=LOWCOV;AC=36;ERATE=0.0003;AF=0.02;AFR_AF=0.07;EUR_AF=0.0013 |
3 | 22 | 20000199 | rs183293480 | A | C | 100.0 | PASS | LDAF=0.0009;THETA=0.0004;AN=2184;AVGPOST=0.9990;VT=SNP;AA=A;RSQ=0.6274;SNPSOURCE=LOWCOV;AC=1;ERATE=0.0003;AF=0.0005;EUR_AF=0.0013 |
4 | 22 | 20000291 | rs185807825 | G | T | 100.0 | PASS | ERATE=0.0005;AVGPOST=0.9983;AA=G;AN=2184;LDAF=0.0015;VT=SNP;SNPSOURCE=LOWCOV;RSQ=0.5564;AC=2;THETA=0.0003;AF=0.0009;ASN_AF=0.0035 |
5 | 22 | 20000428 | rs55902548 | G | T | 100.0 | PASS | AC=323;AVGPOST=0.9983;AA=G;AN=2184;VT=SNP;RSQ=0.9949;LDAF=0.1473;SNPSOURCE=LOWCOV;ERATE=0.0003;THETA=0.0003;AF=0.15;ASN_AF=0.0017;AMR_AF=0.15;AFR_AF=0.31;EUR_AF=0.15 |
6 | 22 | 20000683 | rs142720028 | A | G | 100.0 | PASS | AVGPOST=0.9985;AN=2184;LDAF=0.0015;VT=SNP;RSQ=0.5718;AA=A;SNPSOURCE=LOWCOV;THETA=0.0007;ERATE=0.0003;AC=2;AF=0.0009;AFR_AF=0.0041 |
7 | 22 | 20000771 | rs114690707 | A | C | 100.0 | PASS | ERATE=0.0004;AC=28;AN=2184;RSQ=0.9857;VT=SNP;AA=A;LDAF=0.0130;SNPSOURCE=LOWCOV;AVGPOST=0.9995;THETA=0.0003;AF=0.01;AMR_AF=0.01;AFR_AF=0.05 |
8 | 22 | 20000793 | rs189842693 | T | C | 100.0 | PASS | ERATE=0.0004;RSQ=0.7411;AA=T;AN=2184;AVGPOST=0.9981;AC=6;VT=SNP;SNPSOURCE=LOWCOV;LDAF=0.0031;THETA=0.0003;AF=0.0027;ASN_AF=0.0035;EUR_AF=0.01 |
9 | 22 | 20000810 | rs147349046 | C | T | 100.0 | PASS | AA=C;AVGPOST=0.9994;AC=28;AN=2184;VT=SNP;RSQ=0.9802;SNPSOURCE=LOWCOV;ERATE=0.0003;LDAF=0.0128;THETA=0.0003;AF=0.01;AMR_AF=0.01;AFR_AF=0.05 |
10 | 22 | 20000814 | rs183154520 | T | C | 100.0 | PASS | ERATE=0.0004;AVGPOST=0.9985;THETA=0.0002;AA=T;AN=2184;RSQ=0.4507;VT=SNP;SNPSOURCE=LOWCOV;AC=1;LDAF=0.0012;AF=0.0005;AMR_AF=0.0028 |
11 | 22 | 20000864 | rs187930998 | G | A | 100.0 | PASS | AC=7;THETA=0.0014;AA=g;AN=2184;LDAF=0.0037;RSQ=0.8089;VT=SNP;SNPSOURCE=LOWCOV;ERATE=0.0006;AVGPOST=0.9982;AF=0.0032;ASN_AF=0.01 |
12 | 22 | 20000882 | rs148068532 | C | G | 100.0 | PASS | THETA=0.0004;AN=2184;AC=8;VT=SNP;RSQ=0.9358;AA=c;LDAF=0.0038;SNPSOURCE=LOWCOV;ERATE=0.0003;AVGPOST=0.9995;AF=0.0037;AMR_AF=0.0028;AFR_AF=0.01 |
13 | 22 | 20000950 | rs1978233 | T | G | 100.0 | PASS | ERATE=0.0005;AA=G;AN=2184;AC=2157;VT=SNP;SNPSOURCE=LOWCOV;RSQ=0.8667;LDAF=0.9857;AVGPOST=0.9950;THETA=0.0003;AF=0.99;ASN_AF=1.00;AMR_AF=0.98;AFR_AF=1.00;EUR_AF=0.97 |
14 | 22 | 20000975 | rs141800233 | G | A | 100.0 | PASS | ERATE=0.0004;AVGPOST=0.9994;AA=G;AN=2184;THETA=0.0005;VT=SNP;RSQ=0.9593;AC=15;SNPSOURCE=LOWCOV;LDAF=0.0069;AF=0.01;AMR_AF=0.0028;AFR_AF=0.03 |
15 | 22 | 20001001 | rs192051979 | T | C | 100.0 | PASS | LDAF=0.0027;RSQ=0.6246;AA=T;AN=2184;VT=SNP;ERATE=0.0008;AVGPOST=0.9973;SNPSOURCE=LOWCOV;AC=4;THETA=0.0003;AF=0.0018;ASN_AF=0.01;AMR_AF=0.0028 |
16 | 22 | 20001006 | rs2079702 | G | A | 100.0 | PASS | ERATE=0.0004;RSQ=0.9917;LDAF=0.8452;THETA=0.0004;AN=2184;AVGPOST=0.9972;VT=SNP;AA=A;AC=1847;SNPSOURCE=LOWCOV;AF=0.85;ASN_AF=0.61;AMR_AF=0.83;AFR_AF=0.99;EUR_AF=0.94 |
17 | 22 | 20001016 | rs183256914 | C | T | 100.0 | PASS | AA=C;AN=2184;LDAF=0.0054;AC=6;VT=SNP;ERATE=0.0011;RSQ=0.5737;SNPSOURCE=LOWCOV;THETA=0.0003;AVGPOST=0.9940;AF=0.0027;AMR_AF=0.01;EUR_AF=0.0013 |
18 | 22 | 20001157 | rs150580380 | G | A | 100.0 | PASS | THETA=0.0002;AA=G;AN=2184;VT=SNP;LDAF=0.0020;SNPSOURCE=LOWCOV;AC=1;AVGPOST=0.9968;ERATE=0.0006;RSQ=0.3659;AF=0.0005;ASN_AF=0.0017 |
19 | 22 | 20001159 | rs139570132 | C | T | 100.0 | PASS | ERATE=0.0004;AA=C;THETA=0.0002;AC=28;RSQ=0.9466;AN=2184;AVGPOST=0.9981;VT=SNP;SNPSOURCE=LOWCOV;LDAF=0.0135;AF=0.01;AMR_AF=0.01;AFR_AF=0.05 |
20 | 22 | 20001219 | rs143369598 | G | C | 100.0 | PASS | AC=7;AVGPOST=0.9963;THETA=0.0002;AA=G;AN=2184;LDAF=0.0040;VT=SNP;SNPSOURCE=LOWCOV;RSQ=0.6315;ERATE=0.0003;AF=0.0032;ASN_AF=0.01;EUR_AF=0.0026 |
21 | 22 | 20001333 | rs5993894 | C | T | 100.0 | PASS | ERATE=0.0004;AA=C;AN=2184;LDAF=0.0528;VT=SNP;AVGPOST=0.9980;SNPSOURCE=LOWCOV;RSQ=0.9854;AC=114;THETA=0.0003;AF=0.05;AMR_AF=0.02;AFR_AF=0.21 |
22 | 22 | 20001434 | rs146344141 | C | T | 100.0 | PASS | AA=C;THETA=0.0004;AN=2184;VT=SNP;LDAF=0.0101;RSQ=0.9081;SNPSOURCE=LOWCOV;AC=21;ERATE=0.0003;AVGPOST=0.9974;AF=0.01;ASN_AF=0.0017;AMR_AF=0.01;EUR_AF=0.02 |
23 | 22 | 20001455 | rs188666449 | G | A | 100.0 | PASS | AVGPOST=0.9986;THETA=0.0004;AA=G;AN=2184;VT=SNP;LDAF=0.0011;SNPSOURCE=LOWCOV;AC=1;RSQ=0.4222;ERATE=0.0003;AF=0.0005;ASN_AF=0.0017 |
24 | 22 | 20001521 | rs139601437 | C | A | 100.0 | PASS | ERATE=0.0005;AA=C;AN=2184;RSQ=0.5048;LDAF=0.0010;VT=SNP;THETA=0.0006;AVGPOST=0.9989;SNPSOURCE=LOWCOV;AC=1;AF=0.0005;AFR_AF=0.0020 |
25 | 22 | 20001587 | rs71788814 | CAG | C | 530.0 | PASS | AA=CAG;ERATE=0.0005;AN=2184;AVGPOST=0.9952;VT=INDEL;RSQ=0.9665;LDAF=0.0519;AC=114;THETA=0.0003;AF=0.05;AMR_AF=0.03;AFR_AF=0.21;EUR_AF=0.0013 |
26 | 22 | 20001600 | rs144217522 | T | A | 100.0 | PASS | ERATE=0.0004;AC=28;AA=T;AN=2184;RSQ=0.9560;VT=SNP;THETA=0.0011;LDAF=0.0126;SNPSOURCE=LOWCOV;AVGPOST=0.9984;AF=0.01;AMR_AF=0.01;AFR_AF=0.05 |
27 | 22 | 20001655 | rs192606530 | G | A | 100.0 | PASS | ERATE=0.0004;THETA=0.0002;AA=G;AN=2184;RSQ=0.5888;LDAF=0.0018;VT=SNP;SNPSOURCE=LOWCOV;AC=2;AVGPOST=0.9982;AF=0.0009;AMR_AF=0.01 |
28 | 22 | 20001822 | rs111598545 | A | G | 100.0 | PASS | RSQ=0.9768;THETA=0.0004;AN=2184;VT=SNP;AVGPOST=0.9976;LDAF=0.0418;AA=A;SNPSOURCE=LOWCOV;ERATE=0.0003;AC=91;AF=0.04;ASN_AF=0.01;AMR_AF=0.05;AFR_AF=0.08;EUR_AF=0.04 |
29 | 22 | 20002011 | rs184950746 | C | T | 100.0 | PASS | ERATE=0.0004;AA=C;AVGPOST=0.9994;AN=2184;RSQ=0.6434;THETA=0.0005;VT=SNP;SNPSOURCE=LOWCOV;AC=1;LDAF=0.0008;AF=0.0005;AMR_AF=0.0028 |
30 | 22 | 20002207 | rs142461772 | G | A | 100.0 | PASS | AA=G;AN=2184;AC=6;VT=SNP;AVGPOST=0.9989;LDAF=0.0029;SNPSOURCE=LOWCOV;ERATE=0.0003;THETA=0.0003;RSQ=0.8802;AF=0.0027;AFR_AF=0.01 |
⋮ | ⋮ | ⋮ | ⋮ | ⋮ | ⋮ | ⋮ | ⋮ | ⋮ |
Sometimes we wish to subset entire VCF files, such as filtering out certain samples or records (SNPs). This is achieved via the filter function:
# filtering by specifying indices to keep
record_mask = 1:records # keep all records (SNPs)
sample_mask = 2:(samples - 1) # keep all but first and last sample (individual)
@time VCFTools.filter("test.vcf.gz", record_mask, sample_mask,
des="filtered.test.vcf.gz")
2.356589 seconds (7.01 M allocations: 494.823 MiB, 5.98% gc time)
One can also supply bitvectors as masks:
record_mask = trues(records)
sample_mask = trues(samples)
record_mask[1] = record_mask[end] = false
@time VCFTools.filter("test.vcf.gz", record_mask, sample_mask,
des="filtered.test.vcf.gz")
0.712751 seconds (830.25 k allocations: 110.526 MiB, 2.39% gc time)
Convert GT data in VCF file test.vcf.gz
to a Matrix{Union{Missing, Int8}}
. Here as_minorallele = false
indicates that VCFTools.jl
will copy the 0
s and 1
s of the file directly into A
, without checking if ALT or REF is the minor allele.
@time A = convert_gt(Int8, "test.vcf.gz"; as_minorallele = false,
model = :additive, impute = false, center = false, scale = false)
0.486844 seconds (1.79 M allocations: 139.283 MiB, 6.30% gc time)
191×1356 Array{Union{Missing, Int8},2}: 0 0 0 0 1 0 0 0 0 0 0 0 2 … 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 2 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 2 … 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 0 1 0 0 0 0 0 0 0 2 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 … 0 0 1 0 1 0 0 0 0 1 1 0 0 0 0 0 1 0 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 1 1 0 ⋮ ⋮ ⋮ ⋱ ⋮ ⋮ ⋮ 0 0 0 0 1 0 0 0 0 0 0 0 2 0 0 1 0 0 0 0 0 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 2 … 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 … 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 2 … 0 0 0 0 0 0 0 0 0 0 0 0
Convert GT data in VCF file test.vcf.gz
to a numeric array. This checks which of ALT/REF
is the minor allele, imputes the missing genotypes according to allele frequency, centers the dosages around 2MAF, and scales the dosages by sqrt(2MAF*(1-MAF))
.
@time A = convert_gt(Float64, "test.vcf.gz"; as_minorallele = true,
model = :additive, impute = true, center = true, scale = true)
0.401206 seconds (1.58 M allocations: 130.332 MiB, 7.20% gc time)
191×1356 Array{Union{Missing, Float64},2}: 0.0 0.0 0.0 0.0 1.41301 0.0 … 0.0 0.0 -0.390016 -0.390016 0.0 0.0 0.0 0.0 0.0 -0.586138 0.0 0.0 0.0 -0.390016 -0.390016 0.0 0.0 0.0 0.0 0.0 1.41301 0.0 0.0 0.0 -0.390016 -0.390016 0.0 0.0 0.0 0.0 0.0 -0.586138 0.0 0.0 0.0 -0.390016 -0.390016 0.0 0.0 0.0 0.0 0.0 -0.586138 0.0 0.0 0.0 -0.390016 -0.390016 0.0 0.0 0.0 0.0 0.0 1.41301 0.0 … 0.0 0.0 -0.390016 -0.390016 0.0 0.0 0.0 0.0 0.0 -0.586138 0.0 0.0 0.0 2.36899 2.36899 0.0 0.0 0.0 0.0 0.0 1.41301 0.0 0.0 0.0 -0.390016 -0.390016 0.0 0.0 0.0 0.0 0.0 1.41301 0.0 0.0 0.0 -0.390016 -0.390016 0.0 0.0 0.0 0.0 0.0 -0.586138 0.0 0.0 0.0 -0.390016 -0.390016 0.0 0.0 0.0 0.0 0.0 -0.586138 0.0 … 0.0 0.0 2.36899 2.36899 0.0 0.0 0.0 0.0 0.0 1.41301 0.0 0.0 0.0 -0.390016 -0.390016 0.0 0.0 0.0 0.0 0.0 -0.586138 0.0 0.0 0.0 2.36899 2.36899 0.0 ⋮ ⋮ ⋱ ⋮ 0.0 0.0 0.0 0.0 1.41301 0.0 0.0 0.0 2.36899 2.36899 0.0 0.0 0.0 0.0 0.0 -0.586138 0.0 … 0.0 0.0 -0.390016 -0.390016 0.0 0.0 0.0 0.0 0.0 -0.586138 0.0 0.0 0.0 -0.390016 -0.390016 0.0 0.0 0.0 0.0 0.0 -0.586138 0.0 0.0 0.0 -0.390016 -0.390016 0.0 0.0 0.0 0.0 0.0 -0.586138 0.0 0.0 0.0 -0.390016 -0.390016 0.0 0.0 0.0 0.0 0.0 -0.586138 0.0 0.0 0.0 -0.390016 -0.390016 0.0 0.0 0.0 0.0 0.0 -0.586138 0.0 … 0.0 0.0 -0.390016 -0.390016 0.0 0.0 0.0 0.0 0.0 -0.586138 0.0 0.0 0.0 -0.390016 -0.390016 0.0 0.0 0.0 0.0 0.0 -0.586138 0.0 0.0 0.0 -0.390016 -0.390016 0.0 0.0 0.0 0.0 0.0 -0.586138 0.0 0.0 0.0 -0.390016 -0.390016 0.0 0.0 0.0 0.0 0.0 -0.586138 0.0 0.0 0.0 -0.390016 -0.390016 0.0 0.0 0.0 0.0 0.0 -0.586138 0.0 … 0.0 0.0 -0.390016 -0.390016 0.0
Large VCF files easily generate numeric arrays that cannot fit into computer memory. Many analyses only need to loop over markers or sets of markers. Previous functions for importing genotypes/haplotypes/dosages have equivalent functions to achieve this:
copy_gt!
loops over genotypescopy_ht!
loops over haplotypescopy_ds!
loops over dosagesFor example, to loop over all genotype markers in the VCF file test.vcf.gz
:
using GeneticVariation
# initialize VCF reader
people, snps = nsamples("test.vcf.gz"), nrecords("test.vcf.gz")
reader = VCF.Reader(openvcf("test.vcf.gz"))
# pre-allocate vector for marker data
g = zeros(Union{Missing, Float64}, people)
for j = 1:snps
copy_gt!(g, reader; model = :additive, impute = true, center = true, scale = true)
# do statistical anlaysis
end
close(reader)
To loop over markers in windows of size 25:
# initialize VCF reader
people, snps = nsamples("test.vcf.gz"), nrecords("test.vcf.gz")
reader = VCF.Reader(openvcf("test.vcf.gz"))
# pre-allocate matrix for marker data
windowsize = 25
g = zeros(Union{Missing, Float64}, people, windowsize)
nwindows = ceil(Int, snps / windowsize)
for j = 1:nwindows
copy_gt!(g, reader; model = :additive,
impute = true, center = true, scale = true)
# do statistical anlaysis
end
close(reader)
┌ Warning: Only 7 records left in reader; columns 8-25 are set to missing values └ @ VCFTools /Users/huazhou/.julia/dev/VCFTools/src/convert.jl:67