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The files below list the BCAC 313 variants, the BRIDGES 306 variants, the EGLH-CEN 303 variants, the PERSPECTIVE 295 variants and the PRISMA 268 variants used in the breast cancer PRS and the OCAC 36 variants used in the ovarian cancer PRS. The first line in each file is the square root of the proportion of the overall polygenic variance explained by the PRS (alpha). The rest of the file consists of data records containing the following comma separated fields:

  • name - the name of the variant

  • chromosome - the chromosome on which the variant resides

  • position -  Build 37 (hg19), with 1-based variant positions

  • reference_allele - the reference allele for the variant

  • effect_allele - the effect allele for the variant

  • log_odds_ratio - the log odds ratio for the variant

  • effect_allele_frequency - the allele frequency for the variant

     


BCAC 313

View file
nameBCAC_313_PRS.prs
height150

BRIDGES 306

View file
nameBRIDGES_306_PRS.prs
height150

EGLH-CEN 303

View file
nameEGLH-CEN_303_PRS.prs
height150

PERSPECTIVE 295

View file
namePERSPECTIVE_295_PRS.prs
height150

PRISMA 268

View file
namePRISM_289_PRS.prs
height150


OCAC 36

View file
nameOCAC_36_PRS.prs
height150

Note: For use in BOADICEA, once the vcf file is uploaded, a raw PRS is calculated and standardised using the following population mean and standard deviation parameters. These calculations are done internally.

PRSDiseasemean (mu)standard deviation (sigma)alpha
BCAC 313Breast-0.4240.6110.441
BRIDGES 306Breast-0.4220.608

0.439

EGLH-CEN 303
Breast-0.4070.6060.438

PERSPECTIVE 295

Breast-0.4480.5990.433
PRISMA 289268
Breast0.3220.5580.396