Most Recent Articles: Human Genomicshttps://humgenomics.biomedcentral.comMost Recent Articles: Human GenomicsPaternal aging impacts expression and epigenetic markers as early as the first embryonic tissue lineage differentiationhttps://humgenomics.biomedcentral.com/articles/10.1186/s40246-024-00599-4Advanced paternal age (APA) is associated with adverse outcomes to offspring health, including increased risk for neurodevelopmental disorders. The aim of this study was to investigate the methylome and transc...ResearchTue, 26 Mar 2024 00:00:00 GMThttps://humgenomics.biomedcentral.com/articles/10.1186/s40246-024-00599-4Michelle M. Denomme, Blair R. McCallie, Mary E. Haywood, Jason C. Parks, William B. Schoolcraft and Mandy G. Katz-Jaffe2024-03-26T00:00:00ZClinical spectrum of Transthyretin amyloidogenic mutations among diverse population originshttps://humgenomics.biomedcentral.com/articles/10.1186/s40246-024-00596-7Coding mutations in the Transthyretin (TTR) gene cause a hereditary form of amyloidosis characterized by a complex genotype-phenotype correlation with limited information regarding differences among worldwide pop...ResearchMon, 25 Mar 2024 00:00:00 GMThttps://humgenomics.biomedcentral.com/articles/10.1186/s40246-024-00596-7Antonella De Lillo, Gita A. Pathak, Aislinn Low, Flavio De Angelis, Sarah Abou Alaiwi, Edward J. Miller, Maria Fuciarelli and Renato Polimanti2024-03-25T00:00:00ZLarge-scale next generation sequencing based analysis of SLCO1B1 pharmacogenetics variants in the Saudi populationhttps://humgenomics.biomedcentral.com/articles/10.1186/s40246-024-00594-9SLCO1B1 plays an important role in mediating hepatic clearance of many different drugs including statins, angiotensin-converting enzyme inhibitors, chemotherapeutic agents and antibiotics. Several variants in SLC...ResearchMon, 25 Mar 2024 00:00:00 GMThttps://humgenomics.biomedcentral.com/articles/10.1186/s40246-024-00594-9Ewa Goljan, Mohammed Abouelhoda, Asma Tahir, Mohamed ElKalioby, Brian Meyer and Dorota Monies2024-03-25T00:00:00ZStructural rearrangements as a recurrent pathogenic mechanism for SETBP1 haploinsufficiencyhttps://humgenomics.biomedcentral.com/articles/10.1186/s40246-024-00600-0Chromosomal structural rearrangements consist of anomalies in genomic architecture that may or may not be associated with genetic material gain and loss. Evaluating the precise breakpoint is crucial from a dia...ResearchFri, 22 Mar 2024 00:00:00 GMThttps://humgenomics.biomedcentral.com/articles/10.1186/s40246-024-00600-0V. Alesi, S. Genovese, M. C. Roberti, E. Sallicandro, S. Di Tommaso, S. Loddo, V. Orlando, D. Pompili, C. Calacci, V. Mei, E. Pisaneschi, M. V. Faggiano, A. Morgia, C. Mammì, G. Astrea, R. Battini…2024-03-22T00:00:00ZHemorrhoidal disease and its genetic association with depression, bipolar disorder, anxiety disorders, and schizophrenia: a bidirectional mendelian randomization studyhttps://humgenomics.biomedcentral.com/articles/10.1186/s40246-024-00588-7Hemorrhoids and psychiatric disorders exhibit high prevalence rates and a tendency for relapse in epidemiological studies. Despite this, limited research has explored their correlation, and these studies are o...ResearchThu, 21 Mar 2024 00:00:00 GMThttps://humgenomics.biomedcentral.com/articles/10.1186/s40246-024-00588-7Zhiguang Huang, Jian Huang, Chun Kai Leung, Casper JP Zhang, Babatunde Akinwunmi and Wai-Kit Ming2024-03-21T00:00:00Z