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Fig. 2 | Human Genomics

Fig. 2

From: Pharmacovariome scanning using whole pharmacogene resequencing coupled with deep computational analysis and machine learning for clinical pharmacogenomics

Fig. 2

WES data deep filtration and computational functional assessments. Exome sequencing data were initially filtered for 1800 drug-related genes and analysed by VarSeq, including multiple functional prediction tools as well as SIFT, PolyPhen2, Mutation Assessor, Mutation Taster, FATHMM, and CAAD. Next, several publicly available VCF files were collected and filtered for VarSeq selected genes by related BED file. Frequency of variants in the VarSeq result was assessed in public VCFs and data for neighbour markers were gathered as well. Deep computational data analysis was performed by 23 bioinformatics tools and algorithms for all variants from the previous step. Final data analysis and filtration were performed in order to extract the five most pathogenic markers within the genes with damaging variants in patients with ADRs. (See the text for further information). WES: whole exome sequencing, ADR: adverse drug reaction

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Human Genomics

ISSN: 1479-7364