Estimated prevalence for the populations in gnomAD based on <i>in silico</i> tools and literature references.
journal contribution
posted on 2022-09-19, 17:30 authored by Luisa Sophie Rajcsanyi, Yiran Zheng, Pamela Fischer-Posovszky, Martin Wabitsch, Johannes Hebebrand, Anke Hinney<p>This presents the prevalence estimations using varying definitions of pathogenicity. Here, all variants are classified as ‘pathogenic’ if they were predicted as harmful by at least two <i>in silico</i> tools and were either reported in a clinical case or in a functional study. Further, solely variants listed in the non-synonymous and LoF <i>LEP</i> variants of gnomAD were included in the calculations. NA: not available.</p> <p>(PDF)</p>
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predicting functional implicationsexome aggregation consortiumfunctionally relevant variantsdeleterious leptin variantfunction leptin variantsputatively pathogenic variantsleptin gene leadsleast two toolsgeneral population usingdiv >< ppathogenic leptin variantspathogenic variantsleptin genegeneral populationleptin mutationspathogenic predictionstudy emphasisessilico </present studymonogenic formlow frequencylike siftgreater riskfindings utilizingeast asiadatabase reportedconsanguineous families7 loss68 non
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