Journal article

Identifying Genotype-Phenotype Correlations via Integrative Mutation Analysis.

Edward Airey, Stephanie Portelli, Joicymara S Xavier, Yoo Chan Myung, Michael Silk, Malancha Karmakar, João PL Velloso, Carlos HM Rodrigues, Hardik H Parate, Anjali Garg, Raghad Al-Jarf, Lucy Barr, Juliana A Geraldo, Pâmela M Rezende, Douglas EV Pires, David B Ascher

Methods in molecular biology (Clifton, N.J.) | Published : 2021


Mutations in protein-coding regions can lead to large biological changes and are associated with genetic conditions, including cancers and Mendelian diseases, as well as drug resistance. Although whole genome and exome sequencing help to elucidate potential genotype-phenotype correlations, there is a large gap between the identification of new variants and deciphering their molecular consequences. A comprehensive understanding of these mechanistic consequences is crucial to better understand and treat diseases in a more personalized and effective way. This is particularly relevant considering estimates that over 80% of mutations associated with a disease are incorrectly assumed to be causati..

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