Publications
Explore 612 academic publications
The complete sequence of a human genome
Since its initial release in 2000, the human reference genome has covered only the euchromatic fraction of the genome, leaving important heterochromatic regions unfinished. Addr...
Opinion Paper: “So what if ChatGPT wrote it?” Multidisciplinary perspectives on opportunities, challenges and implications of generative conversational AI for research, practice and policy
Transformative artificially intelligent tools, such as ChatGPT, designed to generate sophisticated text indistinguishable from that produced by a human, are applicable across a ...
LSST: From Science Drivers to Reference Design and Anticipated Data Products
Abstract We describe here the most ambitious survey currently planned in the optical, the Large Synoptic Survey Telescope (LSST). The LSST design is driven by four main science ...
Knowledge Distillation: A Survey
In recent years, deep neural networks have been successful in both industry and academia, especially for computer vision tasks. The great success of deep learning is mainly due ...
Genomic correlates of response to CTLA-4 blockade in metastatic melanoma
Is cancer immunotherapy a private affair? Immune checkpoint blockade, a relatively new cancer treatment, substantially extends the survival of a subset of patients. Previous wor...
Genome-Wide Association Analysis Identifies Loci for Type 2 Diabetes and Triglyceride Levels
New strategies for prevention and treatment of type 2 diabetes (T2D) require improved insight into disease etiology. We analyzed 386,731 common single-nucleotide polymorphisms (...
Targeting the IL-6/JAK/STAT3 signalling axis in cancer
The IL-6/JAK/STAT3 pathway is aberrantly hyperactivated in many types of cancer, and such hyperactivation is generally associated with a poor clinical prognosis. In the tumour m...
The Genomic Landscapes of Human Breast and Colorectal Cancers
Human cancer is caused by the accumulation of mutations in oncogenes and tumor suppressor genes. To catalog the genetic changes that occur during tumorigenesis, we isolated DNA ...
Preferred Reporting Items for a Systematic Review and Meta-analysis of Diagnostic Test Accuracy Studies
The 27-item PRISMA diagnostic test accuracy checklist provides specific guidance for reporting of systematic reviews. The PRISMA diagnostic test accuracy guideline can facilitat...