Journal article
Identifying Genotype–Phenotype Correlations via Integrative Mutation Analysis
E Airey, S Portelli, JS Xavier, YC Myung, M Silk, M Karmakar, JPL Velloso, CHM Rodrigues, HH Parate, A Garg, R Al-Jarf, L Barr, JA Geraldo, PM Rezende, DEV Pires, DB Ascher
Methods in Molecular Biology | HUMANA PRESS INC | Published : 2021
Abstract
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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Awarded by Jack Brockhoff Foundation
Funding Acknowledgements
This work was supported by Australian Government Research Training Program Scholarships [to S.P., M.K., Y.M., C.H.M.R.]; the Jack Brockhoff Foundation [JBF 4186, 2016 to D.B.A.]; a Newton Fund RCUK-CONFAP Grant awarded by The Medical Research Council (MRC) and Fundacao de Amparo a Pesquisa do Estado de Minas Gerais (FAPEMIG) [MR/M026302/1 to D.B.A. and D.E.V.P.]; and the National Health and Medical Research Council of Australia [APP1072476 to D.B.A.].