Article
Identifying Genotype-Phenotype Correlations via Integrative Mutation Analysis.
Methods in molecular biology (Clifton, N.J.) - 1 Jan 2021
Airey Edward, Portelli Stephanie, Xavier Joicymara S, Myung Yoo Chan, Silk Michael, Karmakar Malancha, Velloso João P L, Rodrigues Carlos H M, Parate Hardik H, Garg Anjali, Al-Jarf Raghad, Barr Lucy, Geraldo Juliana A, Rezende Pâmela M, Pires Douglas E V, Ascher David B
Abstract excerpt
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...
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