Annals of the Rheumatic Diseases · 2022 · 32 citations · 37 references
Life SciencesGeneticsMolecular GeneticsGenomicsHuman GeneticsMedical GeneticsDisease Susceptibility LociRare Disease GeneticsRare Variant AnalysisRare Variant Association StudiesVariant AnalysisVariant DetectionExome SequencingFamily-based Rare Variant AnalysisLoss-of-function EffectsLoss-of-function VariantsRare Disease Gene DiscoveryRare Genetic VariantsWhole Exome Sequencing StudiesWhole-exome Sequencing Analysis
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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
The mutational constraint spectrum quantified from variation in 141,456 humans
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The GTEx Consortium atlas of genetic regulatory effects across human tissues
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Annotation of functional variation in personal genomes using RegulomeDB
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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