A Tool to Annotate and Prioritize Exome Variants
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Updated
May 3, 2024 - Java
A Tool to Annotate and Prioritize Exome Variants
fast BAM/CRAM depth calculation for WGS, exome, or targeted sequencing
Cloud based analysis for Doctors, Researchers, Bioinformaticians and Developers.
🔅 State manager for deeply nested states
Leveraging WES short reads for PAN-EXOME creation and analysis.
Statistical analysis on Mutation Annotation Format files from Whole-Exome Sequencing of Tumor samples and Controls.
Target exome sequencing analysis for NYU NGS580 gene panel
WES HLA Typing based on multiple alternative tools
Variantes genéticas de amostras de Rattus norvegicus utilizando GATK4
Exome Slicer - Application to evaluate sequencing quality when designing an Exome Slice (NGS virtual panel)
COverage Analysis Tool have been developed in 2016. It aims to automatically find bad quality regions of coding sequences in a set of sequencing data. It includes a graphical interface.
Please consider using/contributing to https://github.com/nf-core/sarek
Snakemake pipeline to validate exfi's performance
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