Closed mcanouil closed 2 years ago
Column Header | Description | Format | Examples | |
---|---|---|---|---|
SNPID | SNP/INDEL ID label from the imputation server, or from directly genotyped data | Text | 4:10229 / rs693 | |
STRAND | Orientation of the site to the human genome strand used | + (Should be aligned to the forward strand) | + | |
BUILD | Build of the genome on which the SNP is orientated | Numeric | 37 | |
CHR | Chromosome on which the SNP resides | Numeric | 1 | |
POS | Position of SNP on | Base pairs on human genome build used | 34000345 | |
EFFECT_ALLELE | Allele for which the effect (BETA) is reported | SNP: Capital letter (A,C,G,T) / INDEL: Allele output by imputation server | A | |
NON_EFFECT_ALLELE | Other allele at this site | SNP: Capital letter (A,C,G,T) / INDEL: Allele output by imputation server | G | |
N | Total number of samples analysed at this site | Numeric, integer | 1234 | |
N0 | Number of homozygous samples with zero copies of the EFFECT_ALLELE | Numeric, integer or float with 4 digits to the right of the decimal (imputed) | 623 / 745.2345 | |
N1 | Number of heterozygous samples with one copy of the EFFECT_ALLELE | Numeric, integer or float with 4 digits to the right of the decimal (imputed) | 623 / 745.2345 | |
N2 | Number of homozygous samples with two copies of the EFFECT_ALLELE | Numeric, integer or float with 4 digits to the right of the decimal (imputed) | 623 / 745.2345 | |
EAF | Allele frequency of the EFFECT_ALLELE | Frequency with 4 digits to the right of the decimal | 0.3546 | |
HWE_P | Exact HWE p-value for samples analysed, only if genotyped data is used in analysis | Scientific E notation with 4 digits to the right of the decimal (set to missing for imputed | SNPs) | 1.122E-02 / . |
CALL_RATE | Genotyping call rate for the SNP (N_successful/N_attempted) | Frequency 4 digits to the right of the decimal. Set to 1.000 if imputed | 0.9936 | |
BETA | Estimate of the effect size | Numeric float with 4 digits to the right of the decimal | 0.2036 | |
SE | Estimated standard error on the estimate of the effect size, uncorrected for genomic control | Numeric float with 4 digits to the right of the decimal | 0.5611 | |
PVAL | P value of the variant association | Scientific E notation with 4 digits to the right of the decimal | 3.244E-10 | |
IMPUTED | Is the SNP/INDEL imputed? | 0 = Genotyped / 1 = Imputed | 1 | |
INFO_TYPE | Type of information provided in the INFO column | Text, (set to missing if genotyped) | impute_info | |
INFO | Measure of information content for the imputed SNP result | Numeric float with 4 digits to the right of the decimal (set to missing if genotyped) | 0.4832 / . |
@burrowsk @annihei For now and by default (use_info = FALSE
) "INFO" is no longer extracted from the VCF files in run_eggla_gwas()
(9c31a75e0bf8a639d8d6e7b192f8477e453a6fdd).
This will speed up computation, but won't produce the above output, at least not all columns.
Thanks Mikael, I will do a test tun in ALSPAC. I’m now actually utilising parallel for the GWAS so the total run time is now only ~13 Hrs and not a week haha
BW, Kim
Dr. Kimberley Burrows Senior Research Associate in Epidemiology MRC Integrative Epidemiology Unit Population Health Sciences Bristol Medical School University of Bristol Room OS1 Oakfield House, Oakfield Grove, Bristol, BS8 2BN
Email: @.***
http://www.bristol.ac.uk/integrative-epidemiology/ Profile-Kimberley-Burrowshttps://research-information.bris.ac.uk/en/persons/kimberley-burrows(2513bf22-07b2-44e9-ad72-133c3be48c17).html
A top 3 UK university with leading employers (High Fliers 2017) A top 5 UK university for research (REF 2014) A world top 50 university (QS Ranking 2016)
My pronouns are she/her
From: Mickaël Canouil @.> Sent: 15 September 2022 11:57 To: mcanouil/eggla @.> Cc: Kimberley Burrows @.>; Mention @.> Subject: Re: [mcanouil/eggla] Ensure GWAS output is consistent with analysis plan (Issue #48)
@burrowskhttps://github.com/burrowsk @Aannihei For now and by default (use_info = FALSE) "INFO" is no longer extracted in run_eggla_gwas() (9c31a75https://github.com/mcanouil/eggla/commit/9c31a75e0bf8a639d8d6e7b192f8477e453a6fdd). This will speed up computation, but won't produce the above output.
— Reply to this email directly, view it on GitHubhttps://github.com/mcanouil/eggla/issues/48#issuecomment-1247937178, or unsubscribehttps://github.com/notifications/unsubscribe-auth/ACNZZ2KC6ZM3MGR6XBLYZNLV6L6H3ANCNFSM6AAAAAAQBGJQSQ. You are receiving this because you were mentioned.Message ID: @.**@.>>
I'll release eggla v0.13.0
soon, I am waiting for some continuous integration workflows/tests to complete first.
Closed with be4fcc767aecaa31e84b9f3b5a5091b8ce71ea93 and #72
Cheers, will wait for release.
Dr. Kimberley Burrows Senior Research Associate in Epidemiology MRC Integrative Epidemiology Unit Population Health Sciences Bristol Medical School University of Bristol Room OS1 Oakfield House, Oakfield Grove, Bristol, BS8 2BN
Email: @.***
http://www.bristol.ac.uk/integrative-epidemiology/ Profile-Kimberley-Burrowshttps://research-information.bris.ac.uk/en/persons/kimberley-burrows(2513bf22-07b2-44e9-ad72-133c3be48c17).html
A top 3 UK university with leading employers (High Fliers 2017) A top 5 UK university for research (REF 2014) A world top 50 university (QS Ranking 2016)
My pronouns are she/her
From: Mickaël Canouil @.> Sent: 15 September 2022 12:08 To: mcanouil/eggla @.> Cc: Kimberley Burrows @.>; Mention @.> Subject: Re: [mcanouil/eggla] Ensure GWAS output is consistent with analysis plan (Issue #48)
I'll release eggla v0.13.0 soon, I am waiting for some continuous integration workflows/tests to complete first.
— Reply to this email directly, view it on GitHubhttps://github.com/mcanouil/eggla/issues/48#issuecomment-1247949154, or unsubscribehttps://github.com/notifications/unsubscribe-auth/ACNZZ2KLQUM3J6LZVXARNQLV6L7QBANCNFSM6AAAAAAQBGJQSQ. You are receiving this because you were mentioned.Message ID: @.**@.>>
Already released (6 days ago) 😉