Nature · 2022 · 118 citations · 35 references
Life SciencesBiologyMolecular BiologyMitochondrial BiologyMulti-omics IntegrationProteomicsFunctional GenomicsMitochondrial BiochemistryMitochondrial FunctionMitochondrial Gene ExpressionMitochondrial MetabolismMitochondrial PhysiologyMitochondrial GenomicsMitochondrial ProteomicsMitochondrial Transcript MappingMitochondrial TranscriptomeProtein Sorting To Mitochondrial Subcompartments
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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
Analysis of protein-coding genetic variation in 60,706 humans
Monkol Lek, Konrad J. Karczewski, Eric Vallabh Minikel et al. · Nature · 2016 · 10.3K 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
SIFT: predicting amino acid changes that affect protein function
P.C. Ng · Nucleic Acids Research · 2003 · 6.9K citations · Full text
A general framework for estimating the relative pathogenicity of human genetic variants
Martin Kircher, Daniela Witten, Preti Jain et al. · Nature Genetics · 2014 · 6.6K citations · Full text