Resources and tools for rare disease variant interpretation

Resources and tools for rare disease variant interpretation

Collectively, rare genetic disorders affect a substantial portion of the world’s population. In most cases, those affected face difficulties in receiving a clinical diagnosis and genetic characterization. The understanding of the molecular mechanisms of these diseases and the development of therapeu...

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Bibliographic Details
Main Authors: 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
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-05-01
Series:Frontiers in Molecular Biosciences
Subjects:
rare disease
genetic disorder
single nucleotide variant (SNV)
genome interpretation
precision medicine
genotype-phenotype association
Online Access:https://www.frontiersin.org/articles/10.3389/fmolb.2023.1169109/full

Internet

https://www.frontiersin.org/articles/10.3389/fmolb.2023.1169109/full

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