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Resources and Tools for Rare Disease Variant Interpretation

Luana Licata,Allegra Via,Paola Turina,Giulia Babbi,Silvia Benevenuta,Claudio Carta,Rita Casadio,Andrea Cicconardi,Angelo Facchiano,Piero Fariselli,Deborah Giordano,Federica Isidori,Anna Marabotti,Pier Luigi Martelli,Stefano Pascarella,Michele Pinelli,Tommaso Pippucci,Roberta Russo,Castrense Savojardo,Bernardina Scafuri,Lucrezia Valeriani,Emidio Capriotti

Frontiers in molecular biosciences（2023）

Cited 6|Views8
Key words
rare disease,genetic disorder,single nucleotide variant (SNV),genome interpretation,precision medicine,genotype-phenotype association,machine learning
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