SNP analysis

ID naming

TOPMED returns chr:pos:ref:alt.

rsid

REF:ALT to major:minor translation

if (AF == MAF) => ALT = minor, REF = major

SNP matching

switching

flipping

SNP: chr:pos:alt:ref

How do I know if it matches chr:pos:allele_1:allele_2

  • First: chr:pos are equivalent
  • Second: Matching four scenarios

If it matches, use the target variant id (often the variant in the plink files) as the new id.

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Tim

Personalizing medicine