Nature Genetics · 2021 · 108 citations · 38 references
Life SciencesBioinformaticsGeneticsGenomic Data AnalysisGenomicsMedical GeneticsGenotype ImputationGenotyping PlatformsVariant CallingVariant DetectionGenetic Reference PanelsGenotype Imputation AccuracyHaplotype Reference PanelsMissing Genotype InferencePopulation Reference Panels
38
The Sequence Alignment/Map format and SAMtools
Heng Li, Alec Wysoker, Tim Fennell et al. · Bioinformatics · 2009 · 67.5K citations · Full text
A global reference for human genetic variation
Richard Durbin, Peter Donnelly, Paul Flicek et al. · Nature · 2015 · 20K citations · Full text
Minimap2: pairwise alignment for nucleotide sequences
Heng Li · Bioinformatics · 2018 · 16.8K citations · Full text
Graph-based genome alignment and genotyping with HISAT2 and HISAT-genotype
Daehwan Kim, Joseph M. Paggi, Chanhee Park et al. · Nature Biotechnology · 2019 · 15.7K citations · Full text
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