Nature Biotechnology · 2021 · 120 citations · 35 references
Life SciencesBioinformaticsGeneticsCancer GeneticsGenomic Data AnalysisGenomicsGermline Variant AnalysisGermline Variant InterpretationVariant AnalysisVariant CallingVariant DetectionVariant InterpretationGermline Variant CallingGermline Variant DetectionHaplotype Based Variant CallingHaplotype-aware Variant CallingHaplotype-based Variant DetectionSomatic Mutation CallingSomatic MutationsSomatic Variant Calling
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A framework for variation discovery and genotyping using next-generation DNA sequencing data
Mark A. DePristo, Eric Banks, Ryan Poplin et al. · Nature Genetics · 2011 · 12.4K citations · Full text
Signatures of mutational processes in human cancer
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Medicine, Cancer Biology, Oncology +14
Pan-cancer analysis of whole genomes
Lauri A. Aaltonen, Federico Abascal, Adam Abeshouse et al. · Nature · 2020 · 3.3K citations · Full text
Life Sciences, Genetics, Oncology +16
Whole genomes redefine the mutational landscape of pancreatic cancer
Nicola Waddell, Marina Pajic, Ann‐Marie Patch et al. · Nature · 2015 · 2.7K citations · Full text