Jannovar

Jannovar is a powerful and versatile software tool that is specifically designed to facilitate two fundamental steps in the computational analysis of whole-exome sequencing experiments. Primarily, the software provides support for transcript-based annotation, which is essential when analyzing genetic diagnostics and disease-gene discovery projects. Additionally, Jannovar offers support for pedigree analysis, which is a family-based method for identifying variants that are segregating within individuals who exhibit a Mendelian disorder.

To achieve these goals, Jannovar employs an interval tree to identify all transcripts that are affected by a given variant. This allows Jannovar to provide accurate and comprehensive annotations that comply with the Human Genome Variation Society. Jannovar is capable of annotating variants that affect coding sequences, splice junctions, untranslated regions, and noncoding RNA transcripts.

In addition to its annotation capabilities, Jannovar also offers support for family-based pedigree analysis. This feature enables Jannovar to analyze Variant Call Format (VCF) files that contain data from members of a family that exhibits a Mendelian disorder. With the help of Jannovar, researchers can easily identify variants that are segregating within the family and that may be responsible for the disorder.

One of the advantages of Jannovar is its speed. Using a desktop computer, Jannovar requires only a few seconds to annotate a typical VCF file with exome data. This makes it a highly efficient and effective tool for researchers who are working with large datasets.