P3.iscn2024

ISCN 2024 counting

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Label

ISCN 6.5 / Table 7 sample-level counting

Basis

ISCN 2024 section 6.5 and Table 7

Scope

Whole sample

Clone handling

Repeated abnormalities across clones are deduplicated at the sample level.

Weighting

Derivative chromosomes involving two or more chromosomes count as two, while related derivative abnormalities are not counted as additional.

When to use

Use for standards-oriented, disease-agnostic structural complexity review.

Summary

Counts sample-level distinct abnormalities using ISCN 2024 section 6.5, Table 7, and the worked examples in Table 8.

Source Documents

  • docs/counting_abnormalities/6.5 Counting Chromosome Abnormaliti.txt
  • paper/abnormality_counting_methods_and_policies.md