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Adam English edited this page Jan 6, 2023 · 10 revisions

We enjoy using pandas/seaborn for python plotting, so we've made the command truvari vcf2df. This will turn a VCF into a pandas DataFrame and save it to a file using joblib. The resulting DataFrame will always have the columns:

  • chrom: variant chromosome
  • start: 0-based start from pysam.VariantRecord.start
  • end: 0-based end from pysam.VariantRecord.stop
  • id : VCF column ID
  • svtype : SVTYPE as determined by truvari.entry_variant_type
  • svlen : SVLEN as determined by truvari.entry_size
  • szbin : SVLEN's size bin as determined by truvari.get_sizebin
  • qual : VCF column QUAL
  • filter : VCF column FILTER
  • is_pass : boolean of if the filter is empty or PASS

Optionally, vcf2df can attempt to pull INFO and FORMAT fields from the VCF and put each field into the DataFrame as a new column. For FORMAT fields, the VCF header definition's Number is considered and multiple columns may be added. For example, the AD field, typically holding Allele Depth has Number=A, indicating that there will be one value for each allele. Truvari assumes that all VCFs hold one allele per-line, so there are only 2 alleles described per-line, the reference and alternate allele. Therefore, two columns are added to the DataFrame, AD_ref and AD_alt corresponding to the 0th and 1st values from the AD field's list of values. Similarity, for PL (genotype likelihood) with Number=G, there's three values and columns are created named PL_ref, PL_het, PL_hom.

After you've created your benchmarking results with truvari bench, you'll often want to plot different views of your results. vcf2df --bench-dir can parse a truvari output directory's multiple VCF files and add a 'state' column

  • state : The truvari state assigned to the variant
    • tpbase : Parsed from the tp-base.vcf
    • tp : Parsed from the tp-comp.vcf
    • fp : Parsed from the fp.vcf
    • fn : Parsed from the fn.vcf

The created DataFrame is saved into a joblib file, which can then be plotted as simply as:

import joblib
import seaborn as sb
import matplotlib.pyplot as plt

data = joblib.load("test.jl")
p = sb.countplot(data=data[data["state"] == 'tp'], x="szbin", hue="svtype", hue_order=["DEL", "INS"])
plt.xticks(rotation=45, ha='right')
p.set(title="True Positives by svtype and szbin")

This enables concatenation of Truvari results across multiple benchmarking experiments for advanced comparison. For example, imagine there's multiple parameters used for SV discovery over multiple samples. After running truvari bench on each of the results with the output directories named to params/sample/ and each converted to DataFrames with truvari vcf2df, we can expand/concatenate the saved joblib DataFrames with:

import glob
import joblib
import pandas as pd

files = glob.glob("*/*/data.jl")
dfs = []
for f in files:
    params, sample, frame = f.split('/')
    d = joblib.load(f)
    d["params"] = params
    d["sample"] = sample
    dfs.append(d)
df = pd.concat(dfs)
joblib.dump(df, "results.jl")

To facilitate range queries, PyRanges is helpful. vcf2df results can be parsed quickly by pyranges with the command:

result = pyranges.PyRanges(df.rename(columns={'chrom':"Chromosome", "start":"Start", "end":"End"}))
usage: vcf2df [-h] [-b] [-i] [-f] [-s SAMPLE] [-n] [-S] [-c LVL] [--debug] VCF JL

Takes a vcf and creates a data frame. Can parse a bench output directory

positional arguments:
  VCF                   VCF to parse
  JL                    Output joblib to save

optional arguments:
  -h, --help            show this help message and exit
  -b, --bench-dir       Input is a truvari bench directory
  -i, --info            Attempt to put the INFO fields into the dataframe
  -f, --format          Attempt to put the FORMAT fileds into the dataframe
  -s SAMPLE, --sample SAMPLE
                        SAMPLE name to parse when building columns for --format
  -n, --no-prefix       Don't prepend sample name to format columns
  -S, --skip-compression
                        Skip the attempt to optimize the dataframe's size
  -c LVL, --compress LVL
                        Compression level for joblib 0-9 (3)
  --debug               Verbose logging
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