Guide The Variant

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Table of contents

What Are Variants and When to Use Them

Indeed, originally den Dunnen and Antonarakis, the suggestion was to describe two changes in a gene on one chromosome as [c. To prevent confusion with older publications, to improve overall consistency and to keep descriptions as short as possible, the proposal was retracted. The recommended format is c.

In recessive diseases, is it important I show which variants were found in which combination? When in one individual you find more then one variant it is essential that you clearly indicate which variant s were found and on which allele s ; disease severity will depend on the combination of variants found, in recessive disease, when two variants are on one allele an individual is a carrier or you might not have found the variant on the 2nd allele.

I find the notation c. Would using c.

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How should I describe the variants detected in males and females for a gene on the X-chromosome? I have a patient with hearing loss and variants in the GJB2 c. Nancy Carson, Ottawa, Canada.


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The recommendation is to use the format GJB2:c. This uses standard HGVS descriptions and prevents confusion regarding which variant was found in which gene. Note it is essential that you also define the coding DNA reference sequence used. When for a haplotype I have a range of changes to report, is there a suggested short format to use?

When it is once clearly specified e.

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Variants should be listed in genomic order and using "[ ]" for variants on the same chromosome. Suggestion Peter Taschner, Leiden. You enter selection lines for all variables selection criteria in the query. As soon as you enter lines, a corresponding header record is created automatically in the background. When the last line is deleted, the header record is also removed.

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Use the possible entries function F4 to assist you in making your settings. Variants with Constant Selection Criteria.

As with the variants to be generated in SAP BW, you can enter values directly in a variable selection name. For detailed information about the function module and an example of its usage, see the function module documentation in your SAP System. Variants with User-Defined Function Modules. In the User Exit field, you can also enter a user-defined function module to perform additional calculations and conversions on the basis of the stored values see Example: Customer-Defined Conversion Module.

Using the fields Publication , Replication Object , and Criteria Field , you can store references to the corresponding CRM Middleware replication tables containing the subscriptions that are created in the Administration Console.

Such a generic selection has the following underlying logic: the site ID assigned to the current BW user can be taken from the corresponding CRM Middleware tables. Similarly, the subscriptions assigned to these sites can be obtained in the same way. The distribution criteria that are currently valid in CRM Middleware at the point of processing are applied to determine the selection values for the query, in accordance with the relevant publications entered in the generic variant definitions.

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This mechanism makes it possible for realignments and other changes to the selection criteria to be automatically considered for the BW connection. The above methods can be used together in any combination within a variant definition. Exceptions to this are also possible for individual users. This prefix is required so that generated variants do not overwrite any BW variants previously created manually with the same name as the user.


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    • Example: Generic Variant Definition. Show TOC Generic Variant Definition Use To prevent you from having to explicitly create variants for all users of a query, you can use generic definitions to automatically generate variants for all users or user-specific variants for individual users. Prerequisites The query is defined with variables that are ready for input.