Epigenomic annotation‐based interpretation of genomic data: from enrichment analysis to machine learning
Sign Up to like & getrecommendations! Published in 2017 at "Bioinformatics"
DOI: 10.1093/bioinformatics/btx414
Abstract: Motivation One of the goals of functional genomics is to understand the regulatory implications of experimentally obtained genomic regions of interest (ROIs). Most sequencing technologies now generate ROIs distributed across the whole genome. The interpretation… read more here.
Keywords: machine learning; interpretation; enrichment analysis; genomic data ... See more keywords
Genome Nexus: A Comprehensive Resource for the Annotation and Interpretation of Genomic Variants in Cancer
Sign Up to like & getrecommendations! Published in 2022 at "JCO Clinical Cancer Informatics"
DOI: 10.1200/cci.21.00144
Abstract: PURPOSE Interpretation of genomic variants in tumor samples still presents a challenge in research and the clinical setting. A major issue is that information for variant interpretation is fragmented across disparate databases, and aggregation of… read more here.
Keywords: interpretation genomic; genome nexus; genomic variants; annotation ... See more keywords