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SNP analysis

·68 words·1 min·
Tim Liu
Author
Tim Liu
Personalizing medicine · MB BChir & Information/Bioengineering BA (Cambridge) · genetics & genomics, machine learning, digital healthcare

ID naming
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TOPMED returns chr:pos:ref:alt.

rsid

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

SNP matching
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switching
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flipping
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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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