Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions - Aref-Eshghi, Erfan; Bend, Eric G.; Colaiacovo, Samantha; Caudle, Michelle; Chakrabarti, Rana; Napier, Melanie; Brick, Lauren; Brady, Lauren; Carere, Deanna Alexis; Levy, Michael A.; Kerkhof, Jennifer; Stuart, Alan; et al. (American journal of human genetics, 2019)
Keywords: clinical epigenomic testing; Cohort Studies; Computer Simulation; Congenital Abnormalities - diagnosis; Congenital Abnormalities - genetics; congenital anomaly; DNA Copy Number Variations; DNA Methylation; epi-signature; epi-variant; Epigenomics; Gene Dosage; Genetic Diseases, Inborn - diagnosis; Genetic Diseases, Inborn - genetics; Genetic Variation; Genome-Wide Association Study; Genomic Imprinting; Humans; imprinting; multiclass prediction; neurodevelopmental syndrome; nucleotide expansion repeat; Phenotype; Sequence Analysis, DNA; Syndrome; Trinucleotide Repeat Expansion; unresolved case; variant of unknown significance; unresolved case; epi-signature; imprinting; neurodevelopmental syndrome; nucleotide expansion repeat; variant of unknown significance; DNA methylation; multiclass prediction; epi-variant; clinical epigenomic testing; congenital anomaly