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        • DNA Mapping
        • Read Trimming
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        • Sorting and Duplicate Marking
        • Small Variant Calling
          • ROH Caller
          • B-Allele Frequency Output
          • Somatic Mode
          • Joint Analysis
          • De Novo Small Variant Filtering
          • Autogenerated MD5SUM for VCF Files
          • Force Genotyping
          • Machine Learning for Variant Calling
          • Evidence BAM
          • Mosaic Detection
          • VCF Imputation
          • Multi-Region Joint Detection
        • Copy Number Variant Calling
          • CNV Output
          • CNV with SV Support
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        • Indel Re-aligner (Beta)
        • Star Allele Caller
        • High Coverage Analysis
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        • DUX4 Rearrangement Caller
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        • Splice Variant Caller
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  1. Product Guides
  2. DRAGEN v4.4
  3. DRAGEN DNA Pipeline
  4. Ploidy Calling

Ploidy Estimator

The Ploidy Estimator runs by default. The Ploidy Estimator uses reads from the mapper/aligner to calculate the sequencing depth of coverage for each autosome and allosome in the human genome. The sex karyotype of the sample is then estimated using the ratios of the sex chromosome coverages to the autosomal coverage. The sex karyotype is estimated based on the range the ratios fall in. If the ratios are outside all expected ranges, then the Ploidy Estimator does not determine a sex karyotype.

Sex Karyotype
X Ratio Min
X Ratio Max
Y Ratio Min
Y Ratio Max

X0

0.25

0.75

0.00

0.25

XX

0.75

1.25

0.00

0.25

XXX

1.25

1.75

0.00

0.25

XXXX

1.75

2.25

0.00

0.25

XXXXX

2.25

2.75

0.00

0.25

XY

0.25

0.75

0.25

0.75

XXY

0.75

1.25

0.25

0.75

XXXY

1.25

1.75

0.25

0.75

XYY

0.25

0.75

0.75

1.25

XXYY

0.75

1.25

0.75

1.25

XXXYY

1.25

1.75

0.75

1.25

XYYY

0.25

0.75

1.25

1.75

XXYYY

0.75

1.25

1.25

1.75

XYYYY

0.25

0.75

1.75

2.25

Ploidy estimation can fail if the type of input sequencing data cannot be determined to be either WGS or WES. When ploidy estimation fails the estimated coverage values will be zero. The type of input sequencing data is determined using coverage skewness.

skewness = std::abs(autosomeMean - autosomeMedian) / autosomeMean

When skewness is <= 0.2 the data is determined to be WGS. Note that a minimum of 2x coverage is required for WGS. WGS with coverage lower than 2x may not be detected properly or may be detected as WES. When skewness is >=0.6 the data is determined to be WES. Skewness between 0.2 and 0.6 will have undefined input sequencing data type and the reported estimated coverage values will be zero.

For WGS data, the genome coverage is estimated using the 50th percentile of coverage bins across each contig (maybe adjusted for GC bias). This estimated genome coverage is then reported by the Ploidy Estimator and used for sex estimation.

For WES data, the exome coverage is estimated using the 99th percentile of coverage bins across each contig. This estimated exome coverage is then reported by the Ploidy Estimator and used for sex estimation.

If there is not sufficient sequencing coverage in the autosomes (at least 2x for either WGS or WES) then the Ploidy Estimator does not determine a sex karyotype.

When both tumor and matched normal reads are provided as input, the Ploidy Estimator only estimates sequencing coverage and sex karyotype for the matched normal sample and ignores the tumor reads. If only tumor reads are provided as input, the Ploidy Estimator estimates sequencing coverage and sex karyotype for the tumor sample.

Output Metrics

The Ploidy Estimator results, including each normalized per-contig coverage, is reported in the <output-file-prefix>.ploidy_estimation_metrics.csv file and in standard output.

The following is an example of the results.

  PLOIDY ESTIMATION   Autosomal coverage percentile  44.79
  PLOIDY ESTIMATION   X coverage percentile          42.47
  PLOIDY ESTIMATION   Y coverage percentile          20.82
  PLOIDY ESTIMATION   1 / Autosomal ratio            0.95
  PLOIDY ESTIMATION   2 / Autosomal ratio            1.05
  PLOIDY ESTIMATION   3 / Autosomal ratio            1.01
  PLOIDY ESTIMATION   4 / Autosomal ratio            0.99
  ...                                                 
  PLOIDY ESTIMATION   22 / Autosomal ratio           0.99
  PLOIDY ESTIMATION   X / Autosomal ratio            0.95
  PLOIDY ESTIMATION   Y / Autosomal ratio            0.46
  PLOIDY ESTIMATION   Ploidy estimation              XXY
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