Mutant protein variant explains dominant inheritance of genetic immunodeficiency
New research shows how a mutant form of a protein named STAT3 causes a genetically dominant immunodeficiency. “Accordingly,…
Cell-type-resolved genetic variation shapes inflammatory bowel disease risk
Patient recruitment and single-cell sequencing This study was approved by the National Health Service (NHS) Research Ethics Committee…
Popular sweeteners may impact metabolism across generations
When you choose a diet version of your favorite fizzy drink, you consume non-nutritive sweeteners, which taste sweet…
Scientists Found a Protein That Could Keep Your Brain From Growing Old
Here’s what you’ll learn when you read this story: As the human brain ages, the regeneration of neuronal…
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…