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.…
Interplay of genetic predisposition, plasma metabolome and Mediterranean diet in dementia risk and cognitive function
Integrating genetics, plasma metabolomics and dietary intakes to study ADRD etiology in long-running prospective studies We prospectively followed…
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…
Temporal genomic dynamics shape clinical trajectory in multiple myeloma
Maura, F. et al. Moving from cancer burden to cancer genomics for smoldering myeloma: a review. JAMA Oncol.…
Imaging-based multimodal profiling of single cells with STAMP
Single-cell RNA sequencing (scRNA-seq) has dramatically advanced our ability to dissect complex biological systems at cellular resolution. However,…
CRISPR-GPT for agentic automation of gene-editing experiments
Building AI co-pilot harnessing LLM’s reasoning ability CRISPR-GPT supports four major gene-editing modalities and 22 gene-editing experiment tasks…
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…
A consensus statement on the use of digital twins in medicine
The DT is a generic instrument able to integrate different technologies applicable across the disease (and indeed health)…
Methods and applications of in vivo CRISPR screening
Auton, A. et al. A global reference for human genetic variation. Nature 526, 68–74 (2015). Google Scholar García-García,…