Sentence examples for of variant resources from inspiring English sources

The third entity is a set of variant resources.

Construction of variant resources and adding them to the collection of variant resources is the end step of any path through the RIG workflow.

Variants passing user-designated filtration criteria can then be added to the collection of variant resources.

Once the naive pipeline has been used to analyze enough analysis targets, the collection of variant resources may be sufficiently large to answer yes to the initial question.

The RIG workflow can take advantage of multiple data sources by using variants found from one data source to inform the analysis of a second, read-based data source; by providing variants obtained from orthogonal methods, the reliability of variant resources used in BQSR and VQSR can be improved.

Once all five entities are defined, the analysis target, the database of likelihoods, the variant resources, the hypothetical database of likelihoods, and the shared variants, a user can proceed to Phase II.

This review provides a detailed comparison of current human variant resources, including HGMD, OMIM, ClinVar, and UniProt/Swiss-Prot, followed by an overview of the computational methods and techniques used to leverage the available data to predict novel deleterious variants.

As with the database of likelihoods, the variant resources can be empty and likely will be when first executing the workflow.

These are one or more files of VCF-format variant calls, and these calls should be conceptually (and physically, if necessary) partitioned into one or both of two categories: specific variant resources with low false positive rates, and sensitive variant resources with low false negative rates; a specific resource is necessary for VQSR and a sensitive resource is necessary for BQSR.

Shared variants are variants contained in both the hypothetical database of likelihoods and in the chosen variant resources; shared variants can be specific, sensitive, or both (or empty) depending on the classification of the variant resource they were found in.

The Family Reference Variant Resource was considered a highly specific variant resource.