Burden test interpretation

Question

[fbsja]

Hi can someone help me with the interpretation of these results please :

I've done a case-control burden test using pseq for 12 cases and 28 controls

LOCUS        POS                        ALIAS       NVAR    TEST      P      I      DESC
NM_000016    chr1:76190072..76229221    34,ACADM    64      BURDEN    1      0.2    313/147

How do I interpret (313/147) column for 64 variants? Also what is the usual threshold for I, P?

Cheers

[Katie D'Aco]

Take a look at the documentation. "For the BURDEN test, the DESC field contains the number of case/control minor alleles."

[fbsja]

Cheers for the reply.I was just wondering whether the fraction 313/147 should be within 12 cases / 28 controls (if there was some kind of normalisation going on) ...from all the examples I've seen online it just seemed to be the case..

[Katie D'Aco]

From my understanding there is no normalization, these are just raw counts.

[fbsja]

thanks Katie!