Deep phenoty** has been defined as the precise and comprehensive analysis of
phenotypic abnormalities in which the individual components of the phenotype are observed …

Biological entities are involved in intricate and complex interactions, in which uncovering the
biological information from the network concepts are of great significance. Benefiting from …

The development of transcriptome-wide association studies (TWAS) has enabled
researchers to better identify and interpret causal genes in many diseases. However, there …

One of the most pressing challenges in genomic medicine is to understand the role played
by genetic variation in health and disease. Thanks to the exploration of genomic variants at …

The airways of the lung are the primary sites of disease in asthma and cystic fibrosis. Here
we study the cellular composition and hierarchy of the mouse tracheal epithelium by single …

Abstract The Human Phenotype Ontology (HPO)—a standardized vocabulary of phenotypic
abnormalities associated with 7000+ diseases—is used by thousands of researchers …

Results from genome-wide association studies (GWAS) can be used to infer causal
relationships between phenotypes, using a strategy known as 2-sample Mendelian …

Abstract The NHGRI-EBI GWAS Catalog has provided data from published genome-wide
association studies since 2008. In 2015, the database was redesigned and relocated to …

Here we identify hundreds of new drug-disease associations for over 900 FDA-approved
drugs by quantifying the network proximity of disease genes and drug targets in the human …

In 2015, the American College of Medical Genetics and Genomics (ACMG) and the
Association for Molecular Pathology (AMP) published updated standards and guidelines for …