The impact of white matter brain lesions on processing speed deficits in systemic lupus erythematosus patients.

BackgroundThe mechanism of cognitive dysfunction in systemic lupus erythematosus (SLE) is still not fully understood. Even though many SLE patients present some neurological dysfunction, including various cognitive deficits, neither a specific pattern of cognitive dysfunction nor specific structural changes associated with cognitive impairment in SLE patients have been established. Moreover, although prevalent and bothersome, cognitive deficits have not been included in the most recent SLE diagnostic criteria.

DBFE: distribution-based feature extraction from structural variants in whole-genome data.

Motivation: Whole-genome sequencing has revolutionized biosciences by providing tools for constructing complete DNA sequences of individuals. With entire genomes at hand, scientists can pinpoint DNA fragments responsible for oncogenesis and predict patient responses to cancer treatments. Machine learning plays a paramount role in this process.

Validation of HER2 Status in Whole Genome Sequencing Data of Breast Cancers with the Ploidy-Corrected Copy Number Approach.

Background And Objective: Human epidermal growth factor receptor 2 (HER2) protein overexpression is one of the most significant biomarkers for breast cancer diagnostics, treatment prediction, and prognostics. The high accessibility of HER2 inhibitors in routine clinical practice directly translates into the diagnostic need for precise and robust marker identification. Even though multigene next-generation sequencing methodologies have slowly taken over the field of single-biomarker molecular tests, the copy number alterations such as amplification of the HER2-coding ERBB2 gene are hard to validate on next-generation sequencing platforms as they are characterized by chromosomal structural heterogeneity, polysomy, and genomic context of ploidy.