GensearchNGS

GensearchNGS performs analysis of next-generation sequencing (NGS) data to detect, annotate, and report genetic variants for research and clinical genomics.

Key Features:

• Integration of existing tools and custom algorithms: Integrates pre-existing bioinformatics tools with custom algorithms for NGS data processing.
• Distributed computing capabilities: Connects multiple computers to distribute computational workload and accelerate sequence alignments and other processing steps.
• Comprehensive DNAseq workflow: Supports an end-to-end DNA sequencing workflow from raw data quality control through generation of final variant reports.
• Gene panels and database integration: Supports gene panel creation for targeted re-sequencing and integrates with Ensembl for genomic annotations and Cafe Variome for variant sharing.

Scientific Applications:

• Clinical diagnostics: Identification of mutations and variants in known genes for diagnostic contexts.
• Targeted re-sequencing: Design and analysis of gene panels for focused sequencing studies.
• Variant annotation and sharing: Annotation using Ensembl and variant sharing via Cafe Variome to support research and clinical variant interpretation.

Methodology:

Computational methods include integration of pre-existing tools and custom algorithms, raw data quality control, sequence alignment using distributed computing across multiple connected computers, and generation of final variant reports.