JAMA Psychiatry · 2018 · 103 citations · 40 references
Models trained on nonpathogenic deletions in the general population reliably estimate the effect size of pathogenic deletions and suggest omnigenic associations of haploinsufficiency with IQ. This represents a new framework to study variants too rare to perform individual association studies and can help estimate the cognitive effect of undocumented deletions in the neurodevelopmental clinic.
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PLINK: A Tool Set for Whole-Genome Association and Population-Based Linkage Analyses
Shaun Purcell, Benjamin M. Neale, Katherine EO Todd-Brown et al. · The American Journal of Human Genetics · 2007 · 34.9K citations · Full text
Genome-wide Association Study, Whole-genome Association, Linkage Disequilibrium +12
STRING v10: protein–protein interaction networks, integrated over the tree of life
Damian Szklarczyk, Andrea Franceschini, Stefan Wyder et al. · Nucleic Acids Research · 2014 · 10.9K 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 · 10.1K citations · Full text
Phenotypic Variation, Protein-coding Genetic Variation, Genetics +5