Nature Genetics · 2022 · 63 citations · 17 references
Life SciencesGeneticsMolecular GeneticsAfrican StudiesGenome EvolutionGenomicsConservation GenomicsDna SequencingGenome MappingGenome SequencingGenome WritingNext-generation SequencingGenome Sequencing SupportGenomic Resource Development
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A global reference for human genetic variation
Richard Durbin, Peter Donnelly, Paul Flicek et al. · Nature · 2015 · 20K citations · Full text
A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff
Pablo Cingolani, Adrian E. Platts, Le Lily Wang et al. · Fly · 2012 · 12.7K citations · Full text
The mutational constraint spectrum quantified from variation in 141,456 humans
Konrad J. Karczewski, Laurent C. Francioli, Grace Tiao et al. · Nature · 2020 · 10.1K citations · Full text
The UK Biobank resource with deep phenotyping and genomic data
Clare Bycroft, Colin Freeman, Desislava Petkova et al. · Nature · 2018 · 9.7K citations · Full text
Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program
Daniel Taliun, Daniel Harris, Michael D. Kessler et al. · Nature · 2021 · 2.3K citations · Full text