Common variation in meiosis genes shapes human recombination and aneuploidy
Hassold, T. & Hunt, P. To err (meiotically) is human: the genesis of human aneuploidy. Nat. Rev. Genet.…
Genotyping sequence-resolved copy number variation using pangenomes reveals paralog-specific global diversity and expression divergence of duplicated genes
Overview of the genotyping method We represent variation as haplotype segments that are short enough to minimize disruption…
The LMSz method – an automatable scalable approach to constructing gene-specific growth charts in rare disorders
We have developed a method for producing gene-specific z-score centile charts and growth charts based on small datasets…
Systema: a framework for evaluating genetic perturbation response prediction beyond systematic variation
Nonparametric baselines We design two nonparametric baselines that we refer to as perturbed mean and matching mean. Perturbed…
Largest study of African American brain tissue reveals key Alzheimer gene activity
The prevalence of Alzheimer disease (AD) is approximately two times higher in African Americans (AA) compared to White/European-ancestry…
Further phenotypical delineation of DLG3-related neurodevelopmental disorders
Elias GM, Elias LAB, Apostolides PF, Kriegstein AR, Nicoll RA. Differential trafficking of AMPA and NMDA receptors by…
Diversity challenges and reconciles genetics in facioscapulohumeral muscular dystrophy
Wang LH, Tawil R. Facioscapulohumeral dystrophy. Curr Neurol Neurosci Rep. 2016;16:66. Article PubMed Google Scholar Mul K, Lassche…
Genetic variants affecting RNA stability influence complex traits and disease risk
Ethics This research study did not require approval from any specific ethics board/committee. CNV removal We obtained absolute…
AI Model Finds Gene Targets and Drug Combos to Reprogram Diseased Cells
Credit: FlashMovie/Getty Images Traditional drug discovery has often followed the “one drug, one target” paradigm—developing compounds against individual…
Expert Explains How Love Heals Body Through DNA, Internet Says, ‘It Can Damage Too’ | Viral News
Last Updated:September 07, 2025, 06:30 IST Dr Niraj Rai explained how love doesn’t just make you feel good,…
New method advances RNA velocity analysis with spatial and multi batch integration
Essentially all cells in an organism’s body have the same genetic blueprint, or genome, but the set of…
Clinical exome sequencing efficacy and phenotypic expansions involving non-isolated congenital anomalies of kidney and urinary tract (CAKUT+)
Capone VP, Morello W, Taroni F, Montini G. Genetics of congenital anomalies of the kidney and urinary tract:…