Germline genetic variation impacts clonal hematopoiesis landscape and progression to malignancy
Cancer is a genetic disease stemming from a combination of inherited and acquired mutations. Much of our understanding…
Feasibility and clinical utility of expanded genomic newborn screening in the Early Check program
Enrollment rates Between 28 September 2023 and 10 June 2024 (~8.5 months), a total of 2,125 newborns were enrolled.…
Mutational landscape of triple-negative breast cancer in African American women
Patient population Paired tumor and normal samples from 513 self-identified AA women with TNBC were interrogated by WES.…
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…
Methods and applications of in vivo CRISPR screening
Auton, A. et al. A global reference for human genetic variation. Nature 526, 68–74 (2015). Article PubMed Google…
Pressure induced superconductivity in hybrid Ruddlesden‒Popper La5Ni3O11 single crystals
Bednorz, J. G. & Müller, K. A. Possible high Tc superconductivity in the Ba–La–Cu–O system. Z. Phys. B:…
Large-scale genome-wide analyses of stuttering
Yairi, E. & Ambrose, N. Epidemiology of stuttering: 21st century advances. J. Fluen. Disord. 38, 66–87 (2013). Google…
The Platinum Pedigree: a long-read benchmark for genetic variants
Gonzaga-Jauregui, C., Lupski, J. R. & Gibbs, R. A. Human genome sequencing in health and disease. Annu. Rev.…
Tracing the evolution of sequencing into the era of genomic medicine
Sanger, F., Nicklen, S. & Coulson, A. R. DNA sequencing with chain-terminating inhibitors. Proc. Natl Acad. Sci. USA…
Single-nucleus chromatin accessibility profiling identifies cell types and functional variants contributing to major depression
James, S. L. et al. Global, regional, and national incidence, prevalence, and years lived with disability for 354…
Genetic and molecular landscape of comorbidities in people living with HIV
Participants from the 2000HIV study The 2000HIV study is a prospective multicentric observational longitudinal cohort of virally suppressed…
Morphological map of under- and overexpression of genes in human cells
Mattiazzi Usaj, M. et al. High-content screening for quantitative cell biology. Trends Cell Biol. 26, 598–611 (2016). CAS …