By classifying patients into subgroups, clinicians can provide more effective care than using a uniform approach for all patients. Such subgroups might include patients with a particular disease subtype, patients with a good (or poor) prognosis, or p...
International journal of molecular sciences
Mar 5, 2022
Acute myeloid leukemia (AML) is a complex hematological malignancy characterized by extensive heterogeneity in genetics, response to therapy and long-term outcomes, making it a prototype example of development for personalized medicine. Given the acc...
Few methods have been developed to investigate copy number variants (CNVs) based on their predicted pathogenicity. We introduce TADA, a method to prioritise pathogenic CNVs through assisted manual filtering and automated classification, based on an e...
Even though there were many tool developments of fusion gene prediction from NGS data, too many false positives are still an issue. Wise use of the genomic features around the fusion gene breakpoints will be helpful to identify reliable fusion genes ...
BACKGROUND: Although copy number variations (CNVs) are infrequent, each anomaly is unique, and multiple CNVs can appear simultaneously. Growing evidence suggests that CNVs contribute to a wide range of diseases. When CNVs are detected, assessment of ...
Morphological attributes from histopathological images and molecular profiles from genomic data are important information to drive diagnosis, prognosis, and therapy of cancers. By integrating these heterogeneous but complementary data, many multi-mod...
Inflammatory bowel diseases (IBDs), including ulcerative colitis and Crohn's disease, affect several million individuals worldwide. These diseases are heterogeneous at the clinical, immunological and genetic levels and result from complex host and en...
AMIA ... Annual Symposium proceedings. AMIA Symposium
Feb 21, 2022
To date, there have been 180 million confirmed cases of COVID-19, with more than 3.8 million deaths, reported to WHO worldwide. In this paper we address the problem of understanding the host genome's influence, in concert with clinical variables, on ...
Identification of genomic signals as indicators for functional genomic elements is one of the areas that received early and widespread application of machine learning methods. With time, the methods applied grew in variety and generally exhibited a t...