For the complete documentation index, see llms.txt. This page is also available as Markdown.

Knowledge base tracks

These tracks add curated gene and region knowledge.

OMIM

The OMIM track displays genes linked to known genetic disorders.

Use it to review disease associations, inheritance patterns, and to access OMIM entries for deeper clinical context.

OMIM track

ClinGen

The ClinGen track highlights genes or regions with clinically reviewed dosage sensitivity scores.

The track uses color coding by evidence level. Use it to support pathogenicity and genomic stability assessment.

ClinGen track

Segmental Duplications

The Segmental Duplications track shows long, highly similar DNA regions that occur in more than one place in the genome. Use this track to review CNVs in regions where duplicated sequence may affect interpretation.

Select a region in the Seg dup track to view more information about that region:

  • Chr: Chromosome number

  • Pos: Genomic position

  • End: End position

  • SVLEN: Region length

  • SVTYPE: Structural variant type

  • Type: Region type, such as segmental duplication, centromere, telomere, or heterochromatin.

Segmental Duplications track showing segmental duplications.

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