SeqBench

SeqBench manages and analyzes exome sequencing data from next-generation and benchtop sequencers to identify and annotate genomic variants for interpretation in family genetics.

Key Features:

• Data acquisition module: Supports acquisition and organization of exome sequencing datasets.
• Integrated analysis pipeline - SIMPLEX: Provides the SIMPLEX analysis pipeline configurable to run on local machines, compute clusters, or cloud environments.
• Functional annotations and family-context interpretation: Produces functional annotations for identified variants and frames results within family genetics to aid interpretation of potential causative mutations.
• Next-generation and benchtop sequencer support: Handles exome data generated by next-generation sequencing platforms, including benchtop sequencers.

Scientific Applications:

• Disease mutation identification: Identification of mutations responsible for diseases by integrating variant discovery with functional annotation.
• Family-based variant interpretation: Interpretation of variants in the context of family genetics to assess potential causative mutations.
• Exome sequencing for genomic studies: Management and analysis of exome datasets to support studies aimed at elucidating genetic contributors to conditions.

Methodology:

Processing uses the integrated SIMPLEX pipeline to process exome sequencing data from raw acquisition through variant annotation, with deployment on local machines, compute clusters, or cloud environments.