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GEMINI autosomal recessive/dominant (version 0.10.1.0)

Autosomal ...:

GEMINI database:

Only files with version 0.10.1 are accepted.

Columns to include in the report:

By default, this tool reports all columns in the variants table. One may choose to report only a subset of the columns.

Apply additional constraints:

By default, this tool will report all variants regardless of their putative functional impact. In order to apply additional constraints on the variants returned, you can this optional filter.

The minimum aligned sequence depth (genotype DP) required for each sample:

default: 0 (-d)

The min. number of kindreds that must have a candidate variant in a gene:

-1 means default values (--min-kindreds)

What it does

Assuming you have defined the familial relationships between samples when loading your VCF into GEMINI, one can leverage a built-in tool for identifying variants that meet an autosomal recessive or dominant inheritance pattern. The reported variants will be restricted to those variants having the potential to impact the function of affecting protein coding transcripts.

Citation

If you use GEMINI in your research, please cite the following manuscript: