08/2024 - Trends in fetal alcohol spectrum disorder research: A bibliometric review of original articles published between 2000 and 2023
Fetal alcohol spectrum disorder (FASD) is a leading cause of neurodevelopmental disability globally. International organizations have highlighted an urgent need for improved prevention, diagnosis, and support. However, the evidence base needed to inform this is thought to be limited. We conducted two complementary reviews to (i) describe trends in the volume and characteristics of original […]
08/2024 - The genomic landscape of 2,023 colorectal cancers
Colorectal carcinoma (CRC) is a common cause of mortality1, but a comprehensive description of its genomic landscape is lacking2,3,4,5,6,7,8,9. Here we perform whole-genome sequencing of 2,023 CRC samples from participants in the UK 100,000 Genomes Project, thereby providing a highly detailed somatic mutational landscape of this cancer. Integrated analyses identify more than 250 putative CRC […]
07/2024 - A benchmark of computational methods for correcting biases of established and unknown origin in CRISPR-Cas9 screening data
Background CRISPR-Cas9 dropout screens are formidable tools for investigating biology with unprecedented precision and scale. However, biases in data lead to potential confounding effects on interpretation and compromise overall quality. The activity of Cas9 is influenced by structural features of the target site, including copy number amplifications (CN bias). More worryingly, proximal targeted loci tend […]
07/2024 - Tumor evolution metrics predict recurrence beyond 10 years in locally advanced prostate cancer
Cancer evolution lays the groundwork for predictive oncology. Testing evolutionary metrics requires quantitative measurements in controlled clinical trials. We mapped genomic intratumor heterogeneity in locally advanced prostate cancer using 642 samples from 114 individuals enrolled in clinical trials with a 12-year median follow-up. We concomitantly assessed morphological heterogeneity using deep learning in 1,923 histological sections […]
07/2024 - Distinct genetic liability profiles define clinically relevant patient strata across common diseases
Stratified medicine holds great promise to tailor treatment to the needs of individual patients. While genetics holds great potential to aid patient stratification, it remains a major challenge to operationalize complex genetic risk factor profiles to deconstruct clinical heterogeneity. Contemporary approaches to this problem rely on polygenic risk scores (PRS), which provide only limited clinical utility […]
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