Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing
Jan 1, 2018
Analysis of single-subject transcriptome response data is an unmet need of precision medicine, made challenging by the high dimension, dynamic nature and difficulty in extracting meaningful signals from biological or stochastic noise. We have propose...
Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing
Jan 1, 2018
Survival prediction is very important in medical treatment. However, recent leading research is challenged by two factors: 1) the datasets usually come with multi-modality; and 2) sample sizes are relatively small. To solve the above challenges, we d...
Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing
Jan 1, 2018
Glioblastoma Multiforme (GBM), a malignant brain tumor, is among the most lethal of all cancers. Temozolomide is the primary chemotherapy treatment for patients diagnosed with GBM. The methylation status of the promoter or the enhancer regions of the...
Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing
Jan 1, 2018
A central challenge of developing and evaluating artificial intelligence and machine learning methods for regression and classification is access to data that illuminates the strengths and weaknesses of different methods. Open data plays an important...
In contrast to recessive conditions with biallelic inheritance, identification of dominant (monoallelic) mutations for Mendelian disorders is more difficult, because of the abundance of benign heterozygous variants that act as massive background nois...
While only recently developed, the ability to profile expression data in single cells (scRNA-Seq) has already led to several important studies and findings. However, this technology has also raised several new computational challenges. These include ...
MOTIVATION: The NCBI's Sequence Read Archive (SRA) promises great biological insight if one could analyze the data in the aggregate; however, the data remain largely underutilized, in part, due to the poor structure of the metadata associated with ea...
BACKGROUND: The inflammatory bowel diseases (IBDs) are chronic inflammatory disorders, associated with genetic, immunologic, and environmental factors. Although hundreds of genes are implicated in IBD etiology, it is likely that additional genes play...
Journal of the American Medical Informatics Association : JAMIA
May 1, 2017
OBJECTIVE: This paper describes the Precision Medicine Knowledge Base (PMKB; https://pmkb.weill.cornell.edu ), an interactive online application for collaborative editing, maintenance, and sharing of structured clinical-grade cancer mutation interpre...
MOTIVATION: Somatic DNA recombination, the hallmark of vertebrate adaptive immunity, has the potential to generate a vast diversity of antigen receptor sequences. How this diversity captures antigen specificity remains incompletely understood. In thi...