X-Inactivation Skew

Classify X-inactivation skew from allele counts.

Description

X-inactivation skew summarizes the imbalance between two observed cell populations.

X-inactivation skew summarizes the imbalance between two observed cell populations.1

Classify X-inactivation skew from allele counts.

When to use X-Inactivation Skew

Use this tool to classify X-inactivation skew from allele counts.

Prepare the already measured signals, counts, coordinates, fitted coefficients or sequence strings requested. Keep assay definitions, units, aligned lists and caller-selected thresholds consistent.

How to use X-Inactivation Skew and understand its results

  1. Prepare the already measured signals, counts, coordinates, fitted coefficients or sequence strings requested. Keep assay definitions, units, aligned lists and caller-selected thresholds consistent.
  2. Enter alleleOneCells, alleleTwoCells, skewThresholdPercent using the field table and calculation rules, then run the tool.
  3. Read majorAllelePercent, skewRatio, skewed. The explanation below defines the units, signs, ordering and any flags or placeholder values.
  4. If the tool reports an input issue, correct the values and run it again. Apply the stated assumptions when interpreting a successfully returned result.
Input fieldMeaningValue type; see rules belowRequirement
alleleOneCellsAllele-one active cellsinteger; minimum: 0Required
alleleTwoCellsAllele-two active cellsinteger; minimum: 0Required
skewThresholdPercentSkew thresholdnumber; minimum: 50; maximum: 100Required

Enter nonnegative integer counts with positive total and threshold 50–100%. Return majorAllelePercent, skewRatio and inclusive skewed flag; minor share is used internally rather than returned.

major%=100max(counts)/sum(counts)

Units, indexing, boundary conditions and exceptional cases are defined in the calculation rules above.

Output fieldMeaningValue type
majorAllelePercentMajor allele sharenumber; minimum: 50; maximum: 100
skewRatioMajor-minor rationumber; minimum: 1
skewedSkewedboolean
json
{
  "input": {
    "alleleOneCells": 80,
    "alleleTwoCells": 20,
    "skewThresholdPercent": 75
  },
  "output": {
    "majorAllelePercent": 80,
    "skewRatio": 4,
    "skewed": true
  }
}

Limitations and assumptions

Zero minor count returns major count as a finite skew-ratio placeholder. No tissue-specific diagnosis is supplied.

Numeric inputs, where present, must be finite. Follow the calculation-specific rules for overflow, underflow and exceptional cases. Missing required fields, extra fields, wrong value types and violations of the calculation rules are input errors. A successfully returned false flag is an evaluated outcome; its meaning is explained above.

Alternative or Complementary methods

Use XCI Escapee Discordance: Flag XCI escapee candidates with expression skew but balanced methylation. For a complementary task, use XY Intensity Classifier: Classify X/Y intensity contrast without inferring an individual’s gender.

References

  1. X-Inactivation Skew — tool.io

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