{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n C16orf90 has recently emerged as a candidate gene potentially involved in neurodevelopment, as indicated by genomic investigations in patient cohorts with intellectual disability (ID). In a comprehensive exome sequencing study of individuals with ID (4), de novo and recessive variants in C16orf90 were identified alongside mutations in several other genes implicated in neuronal function and brain development. Although its precise biological role remains to be fully characterized, the mutational evidence in patients with overlapping neurodevelopmental phenotypes points toward a contributory role of C16orf90 in cognitive development and neuronal maintenance.\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n This candidate nomination is part of a broader trend in biomedical research where high-throughput and population‐level screening methods are utilized to uncover novel gene–phenotype relationships. For example, dynamic modelling of cell cycle disruptions was successfully applied to uncover gene functions in processes such as mitosis and cell death (1), while epigenome‐wide profiling in prostate cancer has revealed differential methylation patterns that may inform disease progression (2). Additionally, whole-genome sequencing approaches continue to expand our understanding of genes involved in complex traits such as sleep-disordered breathing, highlighting associations in pathways linked to lung development and hypoxic responses (3). Together, these studies underscore the power of multifaceted genomic approaches in identifying novel candidate genes like C16orf90, which warrant further functional investigation."}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "4"}]}, {"type": "t", "text": ""}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Gregoire Pau, Thomas Walter, Beate Neumann, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Dynamical modelling of phenotypes in a genome-wide RNAi live-cell imaging assay."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "BMC Bioinformatics (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/1471-2105-14-308"}], "href": "https://doi.org/10.1186/1471-2105-14-308"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24131777"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24131777"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Rohina Rubicz, Shanshan Zhao, Milan Geybels, et al. "}, {"type": "b", "children": [{"type": "t", "text": "DNA methylation profiles in African American prostate cancer patients in relation to disease progression."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Genomics (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ygeno.2016.02.004"}], "href": "https://doi.org/10.1016/j.ygeno.2016.02.004"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26902887"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26902887"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Brian E Cade, Jiwon Lee, Tamar Sofer, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Whole-genome association analyses of sleep-disordered breathing phenotypes in the NHLBI TOPMed program."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Genome Med (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/s13073-021-00917-8"}], "href": "https://doi.org/10.1186/s13073-021-00917-8"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34446064"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34446064"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "S Anazi, S Maddirevula, E Faqeih, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Psychiatry (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/mp.2016.113"}], "href": "https://doi.org/10.1038/mp.2016.113"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27431290"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27431290"}]}]}]}