The files below list the
BCAC 313 variants, the BRIDGES 306 variants, thevariants for
breast cancer PRS: BCAC 313; BCAC 3820; BRIDGES 306; EGLH-CEN 303
; PERSPECTIVE 295
; PRISMA 268; WISDOM 75; WISDOM 128.
ovarian cancer PRS: OCAC 36; OC-EGLH-CEN 34
.
In the header 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 | ||||
---|---|---|---|---|
|
BCAC 3820
View file | ||||
---|---|---|---|---|
|
BRIDGES 306
View file | ||||
---|---|---|---|---|
|
EGLH-CEN 303
View file | ||||
---|---|---|---|---|
|
PERSPECTIVE 295
View file name PERSPECTIVE_295_PRS.prs height 150
PRISMA 268
View file | ||||
---|---|---|---|---|
|
WISDOM 75
View file | ||||
---|---|---|---|---|
|
WISDOM 128
View file | ||||
---|---|---|---|---|
|
OCAC 36
View file | ||||
---|---|---|---|---|
|
OC-EGLH-CEN 34
View file | ||
---|---|---|
|
|
Note: For use in BOADICEA, once the vcf file is uploaded, a raw PRS is calculated and standardised using the following
populationmean and standard deviation parameters. These calculations are done internally.
PRS | Disease | mean (mu) | standard deviation (sigma) | alpha |
---|---|---|---|---|
BCAC 313 | Breast | -0.424 | 0.611 | 0.441 |
BCAC 3820 | Breast | -0.445 | 0.460 | 0.454 |
BRIDGES 306 | Breast | -0.422 | 0.608 | 0.439 |
EGLH-CEN 303 | Breast | -0.407 | 0.606 | 0.438 |
PERSPECTIVE 295 | Breast | -0.448 | 0.599 | 0.433 |
PRISMA 268 | Breast | 0.322 | 0.558 | 0.396 |
WISDOM 75 | Breast | -1.057 | 0.567 | 0.315 |
WISDOM 128 | Breast | -0.180 | 0.464 | 0.402 |
OC-EGLH-CEN 34 | Ovarian | -0.092 | 0.309 | 0.219 |
OCAC 36 | Ovarian | -0.259 | 0.315 | 0.223 |