VCF/Plotein: A web application to facilitate the clinical interpretation of genetic and genomic variants from exome sequencing projects | bioRxiv
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PDF) COSMIC: a curated database of somatic variants and clinical data for cancer
BRB-SeqTools
Topography of mutational signatures in human cancer - ScienceDirect
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VariantAlert: A web‐based tool to notify updates in genetic variant annotations - Atzeni - 2022 - Human Mutation - Wiley Online Library
Chapter 2 COSMIC Signature Identification | Sigminer: A Scalable Toolkit to Extract, Analyze and Visualize Mutational Signatures
Preparation for Somatic Mutation Annotator
Frontiers | DeteX: A highly accurate software for detecting SNV and InDel in single and paired NGS data in cancer research
MutSpec: a Galaxy toolbox for streamlined analyses of somatic mutation spectra in human and mouse cancer genomes | BMC Bioinformatics | Full Text
5. Typical usage for TN seq — Sentieon 201808.01 documentation
GEMINI: a flexible framework for exploring genome variation — gemini 0.20.1 documentation
Reporting workflow for somatic variants. All variants outputs from the... | Download Scientific Diagram
Translating COSMIC's gold standard data into actionable insights - Bioinformatics Software | QIAGEN Digital Insights
Accelerating Germline and Somatic Genomic Analysis of Whole Genomes and Exomes with NVIDIA Clara Parabricks v.3.6 | by Johnny Israeli | Medium
Available resources and challenges for the clinical annotation of somatic variations - Dumur - 2014 - Cancer Cytopathology - Wiley Online Library
Introduction
PDF) COSMIC: a curated database of somatic variants and clinical data for cancer
A practical framework RNMF for exploring the association between mutational signatures and genes using gene cumulative contribution abundance - Li - 2022 - Cancer Medicine - Wiley Online Library
COSMIC.67/vignettes/COSMIC.67.org at master · juliangehring/COSMIC.67 · GitHub
NeoMutate: an ensemble machine learning framework for the prediction of somatic mutations in cancer | BMC Medical Genomics | Full Text
PPT - All variant calls (VCF file) PowerPoint Presentation, free download - ID:6634015
ICGC: The Next Generation Cancer Mutation Database Now Available | The Golden Helix Blog
BAYSIC: a Bayesian method for combining sets of genome variants with improved specificity and sensitivity | BMC Bioinformatics | Full Text
