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Add note about recommended use of plink1.9 (vs 2.0); addressing issue #…
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HannahVMeyer committed Jun 29, 2020
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11 changes: 10 additions & 1 deletion vignettes/plinkQC.Rmd
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Expand Up @@ -52,11 +52,19 @@ generate a new, clean dataset. Removal of individuals based on relationship
status is optimised to retain as many individuals as possible in the study.

*plinkQC* depends on the [PLINK](https://www.cog-genomics.org/plink/1.9/)
(version $\ge$ 1.9), which has to be manually installed prior to the usage of
(**version 1.9**), which has to be manually installed prior to the usage of
*plinkQC*. It assumes the genotype have already been determined from the
original probe intensity data of the genotype array and is available in
[plink format](https://www.cog-genomics.org/plink/1.9/input#bed).

**Note**: [PLINK](https://www.cog-genomics.org/plink/2.0/)2.0 is still in alpha
status with many re-implementations and updates, including output file changes.
While these changes are ongoing, *plinkQC* will rely on users using PLINK 1.9.
I will monitor PLINK 2.0 changes and check compatibility with `plinkQC`. If
users require specific PLINK 2.0 output, I recommend using the [Step-by-Step]
approach described below and manually saving to
the output files expected from PLINK 1.9.

The protocol is implemented in three main functions, the per-individual quality
control (`perIndividualQC`), the per-marker quality control (`perMarkerQC`) and
the generation of the new, quality control dataset (`cleanData`):
Expand Down Expand Up @@ -340,6 +348,7 @@ fail_snpmissing <- check_snp_missingness(indir=indir, qcdir=qcdir, name=name,
```{r load snp missing, out.width = "500px", echo=FALSE, fig.align='center'}
knitr::include_graphics("snpmissingness.png")
```

## Markers with deviation from HWE
Markers with strong deviation from HWE might be indicative of genotyping or
genotype-calling errors. As serious genotyping errors often yield
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