Add GeneticsLand Custom Query.pdf

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Contents

Introduction

Users can add a "Custom Query" to stratify samples by genetic data content, and the resulting query can then applied, for example, to filter as as a grouping factor.

Add Omic Data Query

Users can select the Add Variant Data Query option that can be found to the direct right of Select View.

VariantDataQueryDropdown.png

Once you performed queries, you can find them under the Sample Tab | Custom Query:

LandQuery2.png

The parameters depend on how the query is performed, by variant or by gene. By selecting Input, Note that if multiple items are input, this equals to multiple individual data queries.

Variant

VariantSpecificMenu.png

Options:

1. Select to query sequenced (i.e. VCF sequenced) or genotyped data (ie. VCF genotyped & PLINK format) published to the Land. Available data is listed in the Query Control under Data Availability. An error will be returned if you attempt to query a variant with no data.

2. Users have the choice to return exact genotypes or coded as AA/AB/BB, Hom reference/Het/Hom alternative, or 0-2 for alternative allele dose.

Gene

GeneSpecificMenu.png

Options:

1. “Return AAmutation classification”: checking this box will perform specific query. For example, search for Y1666Y.

2. Choose the annotations to consider; details of variant annotation categories can be found at Variant Classification Guidelines.

3. Apply a filter to exclude based on 1000 genomes allele frequency.

Note: The ALL SNPs summary table view can be used to query land data for AA mutation, allele frequency, etc.

Delete Omic Data query

Users can delete a specific query or simply remove all queries.

LandQuery5.png

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Naming Custom Queries

By default, each query will contain the variant or gene name.

The user can also specify a custom label for the Query name. For each gene specified, the Query will be named GeneName Query name.

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