Large Language Models (LLMs) have emerged as a transformative power in enhancing
natural language comprehension, representing a significant stride toward artificial general …

The term 'RNA-seq'refers to a collection of assays based on sequencing experiments that
involve quantifying RNA species from bulk tissue, single cells or single nuclei. The kallisto …

Abstract The Catalogue Of Somatic Mutations In Cancer (COSMIC), https://cancer. sanger.
ac. uk/cosmic, is an expert-curated knowledgebase providing data on somatic variants in …

Abstract Machine Learning-based scoring and classification of genetic variants aids the
assessment of clinical findings and is employed to prioritize variants in diverse genetic …

Sickle cell disease (SCD) is a prevalent, life-threatening condition attributable to a heritable
mutation in β-hemoglobin. Therapeutic induction of fetal hemoglobin (HbF) can ameliorate …

Isocitrate dehydrogenase 1 (IDH1) is the most commonly mutated metabolic gene across
human cancers. Mutant IDH1 (mIDH1) generates the oncometabolite (R)-2 …

The phenotypic and regulatory variability of drug transporter (DT) are vital for the
understanding of drug responses, drug-drug interactions, multidrug resistances, and so on …

Previous studies suggested that the copy number of the human salivary amylase gene,
AMY1, correlates with starch-rich diets. However, evolutionary analyses are hampered by …

Clear cell renal cell carcinoma (ccRCC) is the most common form of kidney cancer, but a
comprehensive description of its genomic landscape is lacking. We report the whole …

By processing and abstracting diverse omics datasets into associations between genes and
their attributes, the Harmonizome database enables researchers to explore and integrate …