Genome annotation for clinical genomic diagnostics: strengths and weaknesses - Steward, Charles A.; Parker, Alasdair P. J.; Minassian, Berge A.; Sisodiya, Sanjay M.; Frankish, Adam; Harrow, Jennifer (Genome medicine, 2017)
Keywords: Algorithms; Bioinformatics; Biomedical and Life Sciences; Biomedicine; Cancer Research; Deoxyribonucleic acid; Diagnostic Techniques and Procedures; DNA; DNA sequencing; Epilepsy; Genes; Genetic disorders; Genetic Variation; Genomes; Genomics; Human Genetics; Human Genome Project; Humans; Medicine/Public Health; Metabolomics; Molecular Sequence Annotation - methods; Mutation; Nucleotide sequence; Proteins; Pseudogenes; Review; Sequence Analysis, DNA - methods; Structure-function relationships; Systems Biology; Manual Annotators; lncRNAs; Pathogenic Sequence Variants; American College Of Medical Genetics And Genomics (ACMG); Cap Analysis Gene Expression (CAGE)