Burden test interpretation

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10.3 years ago

fbsja • 0

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

plink association pseq • 4.0k views

ADD COMMENT • link updated 2.9 years ago by Ram 44k • written 10.3 years ago by fbsja • 0

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

ADD REPLY • link 10.3 years ago by Katie D'Aco ★ 1.1k

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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..

ADD REPLY • link updated 2.9 years ago by Ram 44k • written 10.3 years ago by fbsja • 0

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

ADD REPLY • link 10.3 years ago by Katie D'Aco ★ 1.1k

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thanks Katie!

ADD REPLY • link 10.3 years ago by fbsja • 0

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