How does Emedgene Analyze merge variants from different sources?

Beginning with version 36, the Emedgene pipeline prioritizes variant annotations based on the calling methodology rank order. The first appearance of a variant is annotated according to the following hierarchy:

  1. TARGETED

  2. STAR_ALLELE

  3. STR_REPEAT_EXPANSION

  4. MRJD

  5. FORCED_GENOTYPING

  6. SMALL_VARIANT

  7. CNV_READ_DEPTH

  8. SV_SPLIT_END

  9. UNKNOWN

Identical Variant Criteria

Variants are considered identical if they share the same:

  • Chromosome

  • Position

  • Reference allele (REF)

  • Alternate allele (ALT)

Limitation

When applied to Copy Number Variants (CNVs), this approach may merge variants even if they have different lengths.

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