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Table 2 Selection process for GSA assays targeting genotypes considered medically actionable predispositions

From: Establishing analytical validity of BeadChip array genotype data by comparison to whole-genome sequence and standard benchmark datasets

GSA MAP59 subsets

Number of assays

GSA MAP59 (+ / − 1 kb)

6841

GSA MAP59 (select: “ClinVar” AND “Predicted Path”)

5075

GSA MAP59 (select: “ClinVar” AND “Predicted Path” AND “HGMD”)

3082

GSA MAP59 MVL (select: “ClinVar” AND “Predicted Path” AND “HGMD” AND “Curated”)

1883

  1. HGMD Human Gene Mutation Database, Path pathogenic, MVL Managed Variant List
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BMC Medical Genomics

ISSN: 1755-8794

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