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Christine Benchmark WGS Analysis

Whole Genome Short Read Sequencing

Published onFeb 05, 2024
Christine Benchmark WGS Analysis

Analysis Status: Completed.

Publication: More coming.

View full list of genes (Dataset available to approved collaborators).

Full Whole Genome Sequencing analysis organized by:

  1. RSID

  2. Clinvar Link

  3. GNOMAD Link

  4. Clinical Significance

  5. Description

  6. Assertion Criteria

  7. Chromosome

  8. Position

  9. Reference Letter

  10. Alternative Reference

  11. Genotype

  12. Allele1

  13. Allele2

  14. Gene_ID

  15. Gene Symbol

  16. Protein Coding / ncRNA

  17. Frequency

  18. GNOMAD Reference

  19. SNV / Deletion / Duplication

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