Transition Transversion Ratio

Classify substitutions as transitions or transversions and compare Ti/Tv with supplied bounds.

Description

Transitions exchange A with G or C with T; other single-base substitutions are transversions.

Transitions exchange A with G or C with T; other single-base substitutions are transversions. Their count ratio can be screened against an appropriate reference range.

Classify substitutions as transitions or transversions and compare Ti/Tv with supplied bounds.

When to use Transition Transversion Ratio

Use this for the following task: Classify substitutions as transitions or transversions and compare Ti/Tv with supplied bounds.

Prepare the caller-filtered sequences, counts, coordinates or annotations requested below. Keep identifiers and paired lists aligned on the same reference.

How to use Transition Transversion Ratio and understand its results

  1. Prepare the caller-filtered sequences, counts, coordinates or annotations requested below. Keep identifiers and paired lists aligned on the same reference.
  2. Enter referenceBases, alternateBases, minimumRatio, maximumRatio using the field table, then run the tool.
  3. Read transitions, transversions, titvRatio, withinRange. Interpret flags, units, ordering and placeholder values using the rules below.
  4. Review any reported issue or failed check, correct the supplied values when appropriate, and verify the result in its intended context.
Input fieldMeaningValue type and boundsRequirement
referenceBasesReference baseslist of string; minimum entries 1; maximum entries 100000; each entry: string; minimum text length 1; maximum text length 1000000; pattern ^\s*[ACGTacgt]\s*$Required
alternateBasesAlternate baseslist of string; minimum entries 1; maximum entries 100000; each entry: string; minimum text length 1; maximum text length 1000000; pattern ^\s*[ACGTacgt]\s*$Required
minimumRatioMinimum rationumber; minimum 0Required
maximumRatioMaximum rationumber; minimum 0Required

Align canonical single-base references and alternates, normalize case/outer whitespace and reject identical pairs. Require at least one transversion and compare the ratio with inclusive supplied bounds.1

Ti/Tv = transitionCount/transversionCount

This summarizes the declared operation. Units, indexing, inclusivity and exceptional cases are explained in the surrounding text.

Output fieldMeaningValue type
transitionsTransitionsinteger
transversionsTransversionsinteger
titvRatioTitv rationumber
withinRangeWithin rangeboolean
json
{
  "input": {
    "referenceBases": [
      "A",
      "C",
      "A",
      "G"
    ],
    "alternateBases": [
      "G",
      "T",
      "C",
      "T"
    ],
    "minimumRatio": 0.5,
    "maximumRatio": 2
  },
  "output": {
    "transitions": 2,
    "transversions": 2,
    "titvRatio": 1,
    "withinRange": true
  }
}

Limitations and assumptions

A transition-only set has an undefined finite ratio and produces an input error. Passing a range does not establish variant quality.

The tool operates on supplied local data; alignment, filtering and annotation must already be appropriate for the stated calculation. Malformed requests produce input errors. A successfully evaluated request can still contain false flags, empty result lists or a result outside the supplied threshold; those outcomes have the meanings stated above.

Alternative or Complementary methods

Choose Het Hom Ratio Screen for this operation: Screen heterozygous/homozygous-alternate variant ratio against caller-supplied cohort expectations. For a complementary task, use Mutation Context 96 Index for this operation: Index 96 pyrimidine-oriented mutation channels in substitution-major then A/C/G/T flank order.

The implementation reference documents the exact calculation, supported input shapes and returned fields.

References

  1. Transition Transversion Ratio — tool.io

Similar or alternative tools

  • Het Hom Ratio Screen

    Screen heterozygous/homozygous-alternate variant ratio against caller-supplied cohort expectations.

  • Mutation Context 96 Index

    Index 96 pyrimidine-oriented mutation channels in substitution-major then A/C/G/T flank order.

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