Mammalian Genome · 2025 · 13 citations · 77 references
Life SciencesBioinformaticsGeneticsComparative GeneticsComparative GenomicsPhylogeneticsCopy Number Variant AnalysisCopy Number VariationGenetic Diversity AssessmentPopulation GenomicsComparative Copy Number Variation AnalysisCopy Number Variant NomenclatureCopy Number Variation DetectionGenetic Diversity DocumentationGenomic Diversity AssessmentLocal BreedsRepeat Copy Number VariationSmn2 Copy Number Variation
77
The Sequence Alignment/Map format and SAMtools
Heng Li, Alec Wysoker, Tim Fennell et al. · Bioinformatics · 2009 · 67.5K citations · Full text
Fast and accurate short read alignment with Burrows–Wheeler transform
Heng Li, Richard Durbin · Bioinformatics · 2009 · 62.8K citations · Full text
fastp: an ultra-fast all-in-one FASTQ preprocessor
Shifu Chen, Yanqing Zhou, Yaru Chen et al. · Bioinformatics · 2018 · 29.7K citations · Full text
Fast model-based estimation of ancestry in unrelated individuals
David H. Alexander, John Novembre, Kenneth Lange · Genome Research · 2009 · 10.6K citations · Full text