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http://dx.doi.org/10.1016/j.ajhg.2017.11.003 | DOI Listing |
Clin Genet
August 2025
Division of Medical Genetics, Department of Pediatrics, CHU Sainte-Justine, Montreal, Quebec, Canada.
Congenital limb anomalies remain without an etiological diagnosis in up to 65% of patients. To help close this gap, we describe the genetic diagnostic outcomes of a large cohort. Patients whose primary indication for genetic consultation was a limb anomaly were included from 2014 to 2024.
View Article and Find Full Text PDFJ Hum Genet
August 2025
School of Health Sciences and Translational Research, Sister Nivedita University, Kolkata, West Bengal, India.
Elucidating the genetic basis of lipid metabolism in children is essential for early intervention in dyslipidemia and cardiovascular diseases. We performed a two-staged genome-wide association study (GWAS; N = 5412) and an independent exome-wide association study (ExWAS; N = 4750) on lipid parameters-HDL, LDL, Triglycerides (TG), Total Cholesterol (TC) in Indian school-going children - the largest single-cohort paediatric lipid study till date. GWAS identified robust associations at established loci, including CETP for HDL; CELSR2, and PSRC1 for LDL and TC, and GCKR, ZNF259, and TBL2 for TG.
View Article and Find Full Text PDFNat Commun
August 2025
Genome Institute of Singapore (GIS), Agency for Science, Technology and Research (A*STAR), 60 Biopolis Street, Genome #02-01, Singapore, 138672, Republic of Singapore.
Primary angle-closure glaucoma is a major cause of irreversible blindness worldwide afflicting >20 million people. Through whole exome sequencing, we analysed the association between gene-based burden of rare, protein-altering genetic variants and disease risk in 4,667 affected individuals and 5,473 unaffected controls. We tested genes surpassing exome-wide significance (P < 2.
View Article and Find Full Text PDFbioRxiv
July 2025
Computational and Systems Biology Program, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Epstein-Barr Virus (EBV) is an endemic herpesvirus implicated in autoimmunity, cancer, and neurological disorders. Though primary infection typically resolves with subclinical symptoms, long-term complications can arise due to immune dysregulation or viral latency, in which EBV DNA is detectable in blood for decades. Despite the ubiquity of this virus, we have an incomplete understanding of the highly variable responses to EBV that range from asymptomatic infection to a trigger for severe disease.
View Article and Find Full Text PDFNat Commun
August 2025
Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK.
Rare coding variants across many genes contribute to schizophrenia liability, but they have only been implicated in 12 genes at exome-wide levels of significance. To increase power for gene discovery, we analyse exome-sequencing data for rare coding variants in a new sample of 4650 schizophrenia cases and 5719 controls, and combine these with published sequencing data for a total of 28,898 cases, 103,041 controls and 3444 proband-parent trios. We identify associations for STAG1 and ZNF136 at exome-wide significance, genes that were previously implicated in schizophrenia by the SCHEMA study at a false discovery rate of 5%.
View Article and Find Full Text PDF